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An interdisciplinary approach to personalized medicine: case studies from a cardiogenetics clinic In the genomic age, the challenges presented by various inherited conditions present a compelling argument for an interdisciplinary model of care. Cardiac arrhythmias with a genetic basis, such as long QT syndrome, require clinicians with expertise in many specialties to address the complex genetic, psychological, ethical and medical issues involved in treatment. The Montefiore–Einstein Center for CardioGenetics has been established to provide personalized, interdisciplinary care for families with a history of sudden cardiac death or an acute cardiac event. Four vignettes of patient care are presented to illustrate the unique capacity of an interdisciplinary model to address genetic, psychological, ethical and medical issues. Because interdisciplinary clinics facilitate collaboration among multiple specialties, they allow for individualized, comprehensive care to be delivered to families who experience complex inherited medical conditions. As the genetic basis of many complex conditions is discovered, the advantages of an interdisciplinary approach for delivering personalized medicine will become more evident. KEYWORDS: cardiogenetics n interdisciplinary n long QT syndrome n multidisciplinary n personalized medicine
In the era of personalized medicine, genetic information will be increasingly useful in guiding preventive measures and therapeutic care for a variety of complex medical conditions. With these advances, the traditional model of separate referrals to one or several specialists may no longer be adequate. Optimal management of complex medical conditions, particularly those with a recognized genetic component, requires close collaboration among clinical specialists. Under an interdisciplinary model, clinics can bring together the expertise of multiple medical professionals in order to address the variety of ethical, legal and social issues that may arise, and to deliver true personalized medicine. Multidisciplinary and interdisciplinary clinics have been established for the care of various conditions such as diabetes [1], breast cancer [2,3] and kidney disease [4,5]. The terms multidisciplinary and interdisciplinary are often used interchangeably; however, there are some distinctions. Based upon the definition of an interdisciplinary research team [6,7], we define an interdisciplinary clinical team as one that consists of professionals from different medical specialties and disciplines who first meet together to define an initial treatment plan that includes a role for each specialty and, after each consulting with a patient, reconvene to further refine the treatment plan. The goal is for these professionals to voice their individual perspectives and, through discussion, agree upon a plan to present to the
patient. By contrast, a multidisciplinary clinical team consists of multiple specialists who each evaluate a patient independently and then compile their findings at a later point in time [6,7]. While both models allow for coordination and continuity of care at a single site, the interdisciplinary model offers the advantage of a cohesive approach to case formulation, diagnosis and management. In practice, each clinic operates in a unique way that falls somewhere between an interdisciplinary and a multidisciplinary model. One of the reasons the interdisciplinary model is particularly applicable to the treatment of genetic conditions is that the diagnosis and treatment recommendations are often fraught with uncertainty. In many instances, genetic testing alone cannot predict the clinical course of a condition; gene–environment interactions, genetic modifiers and other epigenetic factors can all contribute to the course and the severity of a condition. Furthermore, individuals diagnosed with genetic conditions often have complex medical issues that require the care of multiple medical specialists. Moreover, the shared nature of genetic information means that genetic test results for a single patient often carry implications for other family members and often raise a variety of ethical, legal and psychological issues. For example, laws regarding privacy of health information can pose a challenge to professionals’ ability to manage at-risk family members if mutation-positive probands do not wish their
10.2217/PME.12.108 © 2013 Future Medicine Ltd
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Kathleen E Erskine, Eleanor Griffith, Nicole DeGroat, Marina Stolerman, Louise B Silverstein, Nadia Hidayatallah, David Wasserman, Esma Paljevic, Lilian Cohen, Christine A Walsh, Thomas McDonald, Robert W Marion & Siobhan M Dolan* *Author for correspondence: Department of Obstetrics & Gynecology & Women’s Health, Division of Reproductive Genetics, Albert Einstein College of Medicine/Montefiore Medical Center, 1300 Morris Park Avenue, Mazer 634, Bronx, NY 10461 USA Tel.: +1 718 430 4275 Fax: +1 718 430 8664 [email protected] For full affiliations list, see page 80
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genetic testing results to be shared with their family members. At the Montefiore–Einstein Center for Cardiogenetics (MECC), our interdisciplinary team provides personalized care for patients who have a family history of sudden death, a family or personal history of cardiac events (such as sudden cardiac arrest or syncopal episode), or a cardiac diagnosis predisposing to sudden death, such as long QT syndrome (LQTS), Brugada syndrome, catecholaminergic polymorphic ventricular tachycardia or hypertrophic cardiomyopathy (HCM). The majority of our patients are referred for a clinical and genetic evaluation for LQTS. LQTS is an autosomal dominant channelopathy with variable penetrance. It is characterized by a prolonged QT interval and affected individuals are predisposed to cardiac arrhythmias, which can, in turn, result in syncope or sudden death [8]. Not surprisingly, these patients and their families have complex psychosocial needs; many of them have experienced the sudden death of a family member or had a near-death experience themselves. The issues surrounding genetic testing for LQTS are also quite complex. While approximately 70–80% of individuals with clinical LQTS will have a mutation in a sodium or potassium channel detectable by commercially available genetic testing panels [101–103], the remaining 20–30% will not have an identifiable mutation. In addition, variants of uncertain significance, often due to a lack of functional phenotyping of mutations, are not uncommon. Ultimately, categorizing these variants as disease causing or benign can represent a major research challenge [8]; this can be compounded when several family members harbor similar genetic variants but exhibit little or no evidence of disease. Even when an individual has a clearly identified mutation, opinions as to appropriate medical management may differ, even among cardiologists. Recommendations may include discontinuing strenuous physical activity, which for some patients represents a major change, especially if competitive sports are a major part of their lives. Other recommendations may include regular cardiac monitoring, medications such as b‑blockers, and implantable cardioverter defibrillators (ICDs) [9]. Any of these recommendations may prove to be disruptive to a patient’s lifestyle and have a major impact on family dynamics and plans for the future, as many of these treatment options are life-long. This can raise ethical issues, particularly when the patient is a child or if there are challenges 74
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regarding disclosure or nondisclosure of testing results to family members. An interdisciplinary model represents a comprehensive approach for providing personalized care that integrates these diverse genetic, medical, psychological, social and ethical issues.
MECC interdisciplinary team At the MECC, the interdisciplinary team consists of professionals specializing in clinical genetics and genetic counseling, pediatric and adult cardiology, nursing, psychology and ethics. The team holds a bimonthly clinic and typically consults with two to five families per session. In the case of managing LQTS, these multiple viewpoints are essential. Through taking detailed family histories, clinical geneticists and genetic counselors are able to identify the proband, or the ideal individual to undergo genetic testing, as well as recognize other at-risk individuals. If a disease-causing mutation is found, team members are able to provide genetic counseling and testing services to the appropriate family members. In cases where a variant of uncertain significance is identified, a member of our team who also carries out molecular genetic research conducts additional laboratory research on the functional consequences of the detected mutation. This process, however, may be long and does not always yield informative results; patients are carefully counseled regarding these limitations. Cardiologists are essential for providing the initial clinical diagnosis and overseeing continued medical management through the use of medication, lifestyle modifications and ICDs. Mental health professionals address continued feelings of anxiety, guilt and grief, as many individuals referred to the MECC have a family history of sudden infant death syndrome (SIDS) or sudden unexpected death syndrome, and must grapple with the implications for surviving family members. Finally, our nurse practitioner assists with the clinical management, education, follow-up and continuity of care. Although the ethicist does not usually meet with patients, he frequently consults with the team about issues that arise during the course of their treatment and counseling. Patients are typically referred to the MECC by their cardiologist following a cardiac event or abnormal ECG finding. In addition, a subset of the patient population is provided with the MECC contact information by the medical examiner when he or she notifies a surviving family member of a mutation in one of the genes responsible for LQTS detected on future science group
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molecular autopsy. At the initial visit, the team convenes and formulates a plan for the clinical day. Next, the patient typically meets with a nurse, geneticist or genetic counselor, pediatric or adult cardiologist, and psychologist. Depending on the family dynamics and composition, each member of the team may meet with the patient separately or all members may consult simultaneously with the patient. Following the initial consultation, members of the team discuss their findings and recommendations. Then, one or more members of the team present the team’s consensus and personalized recommendations to the patient and his or her family, and formulate a clinical plan.
Case vignettes The following vignettes are drawn from our experiences at the MECC to illustrate the advantages of an interdisciplinary approach to cardiogenetics. Case 1 A teenage girl presented to the MECC with her mother because of a syncopal episode. During her initial appointment, she met with the geneticist, cardiologist and psychologist. ECGs showed an intermittently prolonged QT interval, and the possibility of LQTS was raised. After undergoing genetic counseling and electing to pursue testing, LQTS genetic testing was negative. In the team meeting, the psychologist speculated that the teenage girl might be pregnant. This possibility was not communicated to the family because there were no objective data to confirm this hypothesis. Moreover, the family did not seem ready to contemplate this possibility because the mother continually described her daughter as a “very good girl.” When the mother later informed the team of her daughter’s pregnancy, the team had already anticipated this complicating factor and was prepared to assist the family. Meeting with the whole cardiogenetics team at the initial consult had allowed a strong rapport to be established from the outset. When the patient and her mother were shocked by the news of the pregnancy, our psychologist was able to provide support. One of the challenges the team faced in caring for the patient was the fact that she and her family lived over 2 hours from the MECC, making it impractical for her to go to a high-risk obstetrician located within our medical center. The patient found a highrisk obstetrician closer to her home, but this obstetrician had limited knowledge regarding future science group
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the management of an individual with possible LQTS. Owing to the support that had already been provided to the family by our cardiologist and psychologist, the mother actively engaged our cardiologist, requesting that she confer with her daughter’s obstetrician to provide her with medical expertise specific to cardiac care during pregnancy. The patient and her mother returned to the clinic at 3 months postpartum for further follow-up care. Case 2 A young couple was referred to the MECC because their first child died in the well-baby nursery, 2 days after birth. Autopsy and newborn screening results yielded no information, and the death was classified as SIDS. An uncertain, but probably significant fraction of SIDS cases may be associated with genetic mutations that lead to cardiac arrhythmias [10,11]. The couple wanted to pursue genetic testing as soon as possible so that they could use the results to plan for their next pregnancy. Before meeting with the couple, the team’s greatest concern was the psychological state of the bereaved parents and the extent to which they could take in further information and make informed testing decisions. Because of our interdisciplinary approach, the couple was able to meet with multiple members of our team during their genetic counseling session, including the psychologist, cardiologist, obstetrician–gynecologist and geneticist, who were each able to assess the level of information the couple was ready to hear and absorb. Initially, the team was hesitant to provide indepth genetic and medical information, worried that this information would be overwhelming or difficult to process at such a vulnerable time. After consulting with the couple, however, all team members agreed that they were ready to receive detailed information and prepared to make informed decisions. Our cardiologist assisted the family by working with the medical examiner’s office to obtain post-mortem tissue from the deceased child for genetic testing for LQTS, as well as other genetic channelopathies. The test results were negative for known cardiac arrhythmia-associated mutations. Because no etiology was identified for the infant’s death, the team was unable to provide a precise recurrence risk. Empirical data suggests, however, that in cases of SIDS with an unknown etiology, recurrence risks likely do not exceed the general population risks [12]. The obstetrician– gynecologist assisted the family in preparing for a subsequent pregnancy. After meeting with the www.futuremedicine.com
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couple, it was agreed they would have a consultation with a high-risk obstetrician and deliver at a hospital with a newborn intensive care unit in order to address their anxieties about a next pregnancy. Had the couple met with only one specialist, there may not have been enough time and expertise to provide this level of assessment, support or referrals. Under the interdisciplinary model, the couple was able to have the majority of their questions answered in a single visit and were not required to make multiple visits to the hospital. The couple went on to have a healthy baby. Case 3 A 12-year-old boy was referred to the MECC following three syncopal episodes. On ECG, he was found to have a prolonged QT interval, and genetic testing revealed a class II possibly deleterious mutation for LQTS type 2. His mother was disappointed by the possibility of activity restrictions. Her son excelled at baseball, and she was hoping that he would be able to go to a private high school on a baseball scholarship. The mother became resistant to the prescribed treatments, altered her son’s dose of b‑blockers without consulting with his cardiologist, and considered seeking a second opinion. Both our cardiologist and psychologist played integral roles in addressing the challenges presented by this family’s situation. When the team learned that the patient’s mother was encouraging her son not to take his medications and not to restrict his active lifestyle, our physicians were not able to determine the reasons for this noncompliance. One of our psychologists met with the family and was able to gain valuable insight into the family’s perspective. She learned that one of the reasons for the noncompliance was that the patient had lied about the severity of his symptoms and actually did not want to play baseball. Another reason for this noncompliance, common among children who have chronic health conditions, was that the patient felt that he was differentiating himself from his peers by taking medications. Following these discoveries, lifestyle modifications acceptable to both the patient and his mother were formulated. Case 4 A mother and her three daughters were referred to the MECC because the two older daughters had each experienced serious cardiac events following their second pregnancies; both had an ICD implanted. The youngest daughter is currently asymptomatic. Genetic testing has thus 76
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far been negative, despite a clinical diagnosis of LQTS in the two symptomatic daughters and a significant paternal family history of sudden death. Our interdisciplinary approach was instrumental in providing effective care and promoting understanding of these negative genetic test results. Due to the extensive family history of sudden death and postpartum syncope in both of the older sisters, the team thought that the presence of an inherited deleterious mutation was very likely, even though a mutation was not identified through conventional technology. It was critical that the limitations of current testing options be explained to the family so that they understood the validity of the clinical diagnosis of LQTS and the implicit risk of LQTS for other first-degree relatives. This explanation was delivered by our geneticist. One of the cardiologists on our team also conducts molecular research on heritable cardiac arrhythmias and is pursuing analysis of possible copy number variants through microarray technology and ‘next-generation’ all-exome sequencing to attempt to identify a disease-causing variant in this family with strong Mendelian phenotype, yet negative commercial testing; the results of this testing and the subsequent analysis are pending. The family was extensively counseled regarding the potential to identify incidental genetic findings and variants of uncertain significance. They were also aware that because this testing was conducted on a research basis, further confirmatory testing may be indicated and results may have a very long turnaround time. For this additional testing, a DNA sample from the daughters’ father was needed and significant counseling was required to explain the importance of obtaining a sample of his blood, particularly because he is currently distant from the family. Our psychologist was also essential to the management of this family’s care. One of the daughters has significant depression due to her cardiac condition, and overall, the family’s anxiety level was very high. Our psychologist lent additional support to the family during their appointments at the Center and provided referrals for appropriate follow-up counseling. She was also involved in recruiting the family for the research that may lead to the identification of a disease-causing mutation.
Discussion As more is learned about the human genome and the role of various genes and genetic modifiers on the development of disease, personalized future science group
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medicine will play a larger role in routine medical care. Interdisciplinary centers will become more critical in order to provide optimal care in the context of complex genetic, health and psychological concerns. In recognition of the complex medical and psychological needs [13] of affected patients and their families, inter- and multi-disciplinary models have already been adopted for the diagnosis and treatment of several common genetic conditions, such as cystic fibrosis, sickle cell disease and hemophilia [14]. These inter- and multi-disciplinary models have proved to be advantageous for the improvement of medical management through integration of care, informed consent and psychological management. Each of the MECC cases described above highlights an intrinsic advantage of an inter disciplinary center: patients are able to obtain comprehensive and customized care at one site, benefiting from the convenience of meeting with multiple specialists at one time and avoiding multiple appointments, while also benefiting from the integrated expertise of a variety of specialized health professionals. Specific to cardiogenetics, an interdisciplinary model allows the patient to benefit both from the expertise of the cardiologist in identifying ECG findings of LQTS and the expertise of the geneticist or genetic counselor in identifying suspect family histories, thus potentially avoiding a diagnostic odyssey. Interdisciplinary models have been adopted for the medical management of various genetic and nongenetic conditions, and improved patient outcomes have been well documented. Evidence of benefits have included shorter and less expensive hospital stays on a multidisciplinary general medicine inpatient floor [15], and better blood chemistry markers [4] and survival rates [5] in multidisciplinary nephrology clinics as compared with control groups not seen in multidisciplinary settings. Furthermore, national and international treatment guidelines have established interdisciplinary clinics as the standard of care for cystic fibrosis. These interdisciplinary clinics bring together pediatricians, specialists in pulmonary medicine and infectious disease, genetic counselors, respiratory and physical therapists, nurses, social workers and psychologists and nutritionists [14,16,17]. Given this documented success, the adoption of interdisciplinary care models for the use of personalized medicine in the treatment of various conditions warrants further investigation. Another advantage of an interdisciplinary approach is an improved process of informed future science group
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consent, which will become essential as genetic testing becomes more routine. By receiving information from a variety of professionals, patients are able to consider information from different clinical perspectives. Cardiologists weigh in on how genetic testing results may impact the patient’s medical management. Genetics specialists detail the impact these results could have on other members of the family and answer concerns about privacy. A psychologist is also on site if the patient requires further counseling or experiences anxiety about the test results. These complex issues are paralleled, and an informed consent model has been well established, with genetic testing for Huntington’s disease. Due to the enormous psychological impact of Huntington’s disease testing, guidelines have been established recommending that anyone considering presymptomatic testing should meet with a multidisciplinary team consisting of a geneticist, neurologist, social worker, psychologist and a medical ethicist, and that at least a month pass between the initial meeting and diagnostic testing [18,19]. These guidelines specifying a multidisciplinary model have had a significant impact; upon learning more information, 22–43% [20,21] of individuals withdrew from the testing protocol and opted not to pursue genetic testing. Similar sentiments are echoed in the field of genetic testing for HCM. In one study, genetic counselors or geneticists were recognized as best suited for discussing the implications of genetic testing and ensuring informed consent [22]. In another study, many geneticists and cardiologists stated a preference for a team approach between cardiology and genetics when it comes to genetic testing, and the discussion of the implications of the results for the patient and his or her family [23]. Finally, because there is a psychologist on the team at the MECC, we are able to provide immediate psychosocial support. When meeting with the various members of the team, patients have the opportunity to voice their concerns, anxieties and other feelings with a variety of professionals, each of whom have a skill set to provide such basic psychological support. In cases of LQTS, HCM and other inherited cardiac conditions, it has been documented that affected individuals often have high levels of anxiety, worry and uncertainty related to their diagnosis [24]. Furthermore, some of the treatment options associated with LQTS, particularly ICDs, have been associated with anxiety and depression [25]. www.futuremedicine.com
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Often, the severity of these psychological symptoms may require counseling beyond the scope of genetic counselors and clinicians. In this case, these psychological issues are best addressed by trained psychologists [26,27]. A meta-analysis of 37 studies examining the effect of collaborative care for depression found significant improvements in both short- and long-term outcomes [28]. In addition, in the management of HCM, patients treated in a comprehensive center were found to have lower levels of anxiety [29].
Limitations Since the inception of the MECC in January 2010, several limitations have been identified. Some of our specific challenges are related to space restrictions. Patients must go to one floor of the hospital to obtain cardiac testing and to another floor to meet with members of the team, highlighting the fact that current clinical layouts and infrastructure were not designed to facilitate an interdisciplinary model. Additional challenges involve funding for the MECC, as there is usually limited reimbursement for each department.
Moving forward, hospital infrastructure, including layouts of future hospitals and clinics, as well as billing systems, should be designed with interdisciplinary clinics in mind. Another limitation in certain cases is the length of the appointments. Since each patient is meeting with at least three specialists and having multiple cardiac tests performed, appointments may keep patients at the MECC for several hours. Some patients bring young children who may not have the tolerance to wait for long periods of time; others have difficulty taking more than 1 or 2 hours off from work to accommodate the length of the appointment. Another concern is that patients typically receive a large amount of information during this initial visit; a clinician must consider the point at which the patient becomes overwhelmed and can no longer absorb new information. With all of these situations, case-by-case assessments must be made.
Conclusion Interdisciplinary clinics enable collaboration among multiple specialties in order to allow
Executive summary Background An interdisciplinary clinical team consists of professionals from different medical specialties and disciplines who work together to create and execute a personalized treatment plan. An interdisciplinary care model has been adopted, with documented success, for the management of conditions such as diabetes, breast cancer and kidney disease. With an increased availability and uptake of genetic testing and its utility for personalized medicine, there will be a need for interdisciplinary centers. Cardiac conditions with a hereditary component, such as long QT syndrome, are examples of conditions that have complex medical, genetic, ethical and psychosocial issues that would benefit from an interdisciplinary model of care. Montefiore–Einstein Center for Cardiogenetics interdisciplinary team The Montefiore–Einstein Center for Cardiogenetics is an interdisciplinary clinic that includes professionals from clinical genetics and genetic counseling, pediatric and adult cardiology, nursing, psychology and ethics. Patients are typically referred following a cardiac event or abnormal ECG finding, or following the identification of a mutation in one of the genes responsible for long QT syndrome on molecular autopsy. Case vignettes Each of the selected cases illustrates a situation where the patient benefited from the interdisciplinary model. Case 1: teenager presented to the clinic following a syncopal episode and was pregnant – cardiology, psychology (unplanned pregnancy and family dynamics) and obstetrics–gynecology (referral for high-risk management). Case 2: parents following sudden death of their infant – genetics (testing for infant through the medical examiner), psychology (grieving and loss), cardiology (evaluation) and obstetrics–gynecology (planning of future pregnancy). Case 3: 12-year-old boy involved in sports – cardiology (evaluation for syncopal episodes and cardiac management), genetics (genetic testing and gene mutation) and psychology (noncompliance with medications). Case 4: family with an extensive history of syncopal episodes and cardiac arrest – cardiology (evaluation and management), genetics (genetic testing), psychology (high anxiety) and basic research (no detectable mutations). Discussion An interdisciplinary setting enhances customized patient care, the informed consent process and psychosocial support. Conclusion As more is known about the human genome and the uptake of exome sequencing increases, there will be a greater need for interdisciplinary clinics to address emerging healthcare challenges in the era of personalized medicine.
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personalized medicine to be delivered to families affected by complex inherited medical conditions. We have provided care to numerous patients for whom the interdisciplinary model has proved beneficial. As we gain more experience and receive additional feedback from our patients, we are continuing to modify the structures and procedures of the Center. By combining our experiences at the MECC with those of other interdisciplinary clinics, we hope to create a comprehensive model for the care of individuals with complex genetic conditions.
Future perspective As more is known about the human genome and exome sequencing becomes both more available and more affordable, there will be an increased need for interdisciplinary clinics to address the complex genetic, medical, ethical and psychosocial issues that will arise with this increase in testing. Even though the benefits of an interdisciplinary model of care have been documented Papers of special note have been highlighted as: n of interest nn of considerable interest 1
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Maislos M, Weisman D. Multidisciplinary approach to patients with poorly controlled Type 2 diabetes mellitus: a prospective, randomized study. Acta Diabetol. 41(2), 44–48 (2004). Pichert G, Jacobs C, Jacobs I et al. Novel onestop multidisciplinary follow-up clinic significantly improves cancer risk management in BRCA1/2 carriers. Fam. Cancer 9(3), 313– 319 (2010). Pichert et al. implemented a multidisciplinary clinic for individuals with a BRCA1 or 2 mutation and noted that it improved cancer risk management, as well as provided information and psychosocial support. Castellanos MR, Conte J, Fadel DA et al. Improving access to breast health services with an interdisciplinary model of care. Breast J. 14(4), 353–356 (2008). Menon S, Valentini RP, Kapur G et al. Effectiveness of a multidisciplinary clinic in managing children with chronic kidney disease. Clin. J. Am. Soc. Nephrol. 4(7), 1170–1175 (2009). Curtis BM, Ravani P, Malberti F et al. The short- and long-term impact of multidisciplinary clinics in addition to standard nephrology care on patient outcomes. Nephrol. Dial. Transplant. 20(1), 147–154 (2005). Stokols D, Hall KL, Taylor BK et al. The science of team science: overview of the
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in the literature, significant barriers to providing this care will still exist, namely in hospital and insurance infrastructure. Significant modifications to the current model of care would need to be made in order to facilitate the delivery of interdisciplinary care. Disclaimer The content of this article is solely the responsibility of the authors and does not necessarily represent the official views of the National Heart, Lung, and Blood Institute or the NIH.
Financial & competing interests disclosure The project described is supported by Award Number RC1HL100756 from the National Heart, Lung, and Blood Institute. The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed. No writing assistance was utilized in the production of this manuscript. field and introduction to the supplement. Am. J. Prev. Med. 35(Suppl. 2), S77–S89 (2008).
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Louise B Silverstein Ferkauf Graduate School of Psychology, Yeshiva University, 1300 Morris Park Avenue, Bronx, NY, USA
Nadia Hidayatallah Ferkauf Graduate School of Psychology, Yeshiva University, 1300 Morris Park Avenue, Bronx, NY, USA
David Wasserman Center for Ethics at Yeshiva University, 500 W 185th Street, New York, NY, USA
Esma Paljevic Pediatric Heart Center, Children’s Hospital at Montefiore, 3415 Bainbridge Avenue, Bronx, NY, USA
Lilian Cohen Division of Medical Genetics, Weill Cornell Medical College/New York Presbyterian Hospital, 505 East 70th Street, Helmsley Tower, 3rd Floor, New York, NY, USA
Christine A Walsh Pediatric Dysrhythmia Center, Children’s Hospital at Montefiore, 3415 Bainbridge Avenue, Bronx, NY, USA
Kathleen E Erskine Department of Obstetrics & Gynecology & Women’s Health, Division of Reproductive Genetics, Albert Einstein College of Medicine/Montefiore Medical Center, 1695 Eastchester Road, Suite 301, Bronx, NY, USA
Thomas McDonald Departments of Medicine/Cardiology & Molecular Pharmacology, Albert Einstein College of Medicine, 1300 Morris Park Avenue, Forchheimer G35, Bronx, NY, USA
Eleanor Griffith University OBGYN Associates, Ambulatory Care Center, C1673, UMDNJ, 140 Bergen Street, Newark, NJ 07103, USA
Robert W Marion Divisions of Developmental Medicine & Genetics, Children’s Hospital at Montefiore, 3415 Bainbridge Avenue, Bronx, NY, USA
Siobhan M Dolan Department of Obstetrics & Gynecology & Women’s Health, Division of Reproductive Genetics, Albert Einstein College of Medicine/Montefiore Medical Center, 1300 Morris Park Avenue, Mazer 634, Bronx, NY 10461 USA
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Affiliations
Living with long QT syndrome: a qualitative study of coping with increased risk of sudden cardiac death. J. Genet. Couns. 17, 489–498 (2008). 25 Thomas SA, Friedmann E, Kao CW et al.
Marina Stolerman Private Practice, 425 E 86th Street, Suite 1A, New York, NY, USA
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Bonsel GJ, Wilde AA, Smets EM. Genetic counseling and cardiac care in predictively tested hypertrophic cardiomyopathy mutation carriers: the patients’ perspective. Am. J. Med. Genet. A 149A(7), 1444–1451 (2009).
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Medicine/Montefiore Medical Center, 1300 Morris Park Avenue, Mazer 632, Bronx, NY, USA
Nicole DeGroat Department of Obstetrics & Gynecology & Women’s Health, Division of Reproductive Genetics, Albert Einstein College of
Personalized Medicine (2013) 10(1)
future science group
An interdisciplinary approach to personalized medicine: case studies from a cardiogenetics clinic In the genomic age, the challenges presented by various inherited conditions present a compelling argument for an interdisciplinary model of care. Cardiac arrhythmias with a genetic basis, such as long QT syndrome, require clinicians with expertise in many specialties to address the complex genetic, psychological, ethical and medical issues involved in treatment. The Montefiore–Einstein Center for CardioGenetics has been established to provide personalized, interdisciplinary care for families with a history of sudden cardiac death or an acute cardiac event. Four vignettes of patient care are presented to illustrate the unique capacity of an interdisciplinary model to address genetic, psychological, ethical and medical issues. Because interdisciplinary clinics facilitate collaboration among multiple specialties, they allow for individualized, comprehensive care to be delivered to families who experience complex inherited medical conditions. As the genetic basis of many complex conditions is discovered, the advantages of an interdisciplinary approach for delivering personalized medicine will become more evident. KEYWORDS: cardiogenetics n interdisciplinary n long QT syndrome n multidisciplinary n personalized medicine
In the era of personalized medicine, genetic information will be increasingly useful in guiding preventive measures and therapeutic care for a variety of complex medical conditions. With these advances, the traditional model of separate referrals to one or several specialists may no longer be adequate. Optimal management of complex medical conditions, particularly those with a recognized genetic component, requires close collaboration among clinical specialists. Under an interdisciplinary model, clinics can bring together the expertise of multiple medical professionals in order to address the variety of ethical, legal and social issues that may arise, and to deliver true personalized medicine. Multidisciplinary and interdisciplinary clinics have been established for the care of various conditions such as diabetes [1], breast cancer [2,3] and kidney disease [4,5]. The terms multidisciplinary and interdisciplinary are often used interchangeably; however, there are some distinctions. Based upon the definition of an interdisciplinary research team [6,7], we define an interdisciplinary clinical team as one that consists of professionals from different medical specialties and disciplines who first meet together to define an initial treatment plan that includes a role for each specialty and, after each consulting with a patient, reconvene to further refine the treatment plan. The goal is for these professionals to voice their individual perspectives and, through discussion, agree upon a plan to present to the
patient. By contrast, a multidisciplinary clinical team consists of multiple specialists who each evaluate a patient independently and then compile their findings at a later point in time [6,7]. While both models allow for coordination and continuity of care at a single site, the interdisciplinary model offers the advantage of a cohesive approach to case formulation, diagnosis and management. In practice, each clinic operates in a unique way that falls somewhere between an interdisciplinary and a multidisciplinary model. One of the reasons the interdisciplinary model is particularly applicable to the treatment of genetic conditions is that the diagnosis and treatment recommendations are often fraught with uncertainty. In many instances, genetic testing alone cannot predict the clinical course of a condition; gene–environment interactions, genetic modifiers and other epigenetic factors can all contribute to the course and the severity of a condition. Furthermore, individuals diagnosed with genetic conditions often have complex medical issues that require the care of multiple medical specialists. Moreover, the shared nature of genetic information means that genetic test results for a single patient often carry implications for other family members and often raise a variety of ethical, legal and psychological issues. For example, laws regarding privacy of health information can pose a challenge to professionals’ ability to manage at-risk family members if mutation-positive probands do not wish their
10.2217/PME.12.108 © 2013 Future Medicine Ltd
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Kathleen E Erskine, Eleanor Griffith, Nicole DeGroat, Marina Stolerman, Louise B Silverstein, Nadia Hidayatallah, David Wasserman, Esma Paljevic, Lilian Cohen, Christine A Walsh, Thomas McDonald, Robert W Marion & Siobhan M Dolan* *Author for correspondence: Department of Obstetrics & Gynecology & Women’s Health, Division of Reproductive Genetics, Albert Einstein College of Medicine/Montefiore Medical Center, 1300 Morris Park Avenue, Mazer 634, Bronx, NY 10461 USA Tel.: +1 718 430 4275 Fax: +1 718 430 8664 [email protected] For full affiliations list, see page 80
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genetic testing results to be shared with their family members. At the Montefiore–Einstein Center for Cardiogenetics (MECC), our interdisciplinary team provides personalized care for patients who have a family history of sudden death, a family or personal history of cardiac events (such as sudden cardiac arrest or syncopal episode), or a cardiac diagnosis predisposing to sudden death, such as long QT syndrome (LQTS), Brugada syndrome, catecholaminergic polymorphic ventricular tachycardia or hypertrophic cardiomyopathy (HCM). The majority of our patients are referred for a clinical and genetic evaluation for LQTS. LQTS is an autosomal dominant channelopathy with variable penetrance. It is characterized by a prolonged QT interval and affected individuals are predisposed to cardiac arrhythmias, which can, in turn, result in syncope or sudden death [8]. Not surprisingly, these patients and their families have complex psychosocial needs; many of them have experienced the sudden death of a family member or had a near-death experience themselves. The issues surrounding genetic testing for LQTS are also quite complex. While approximately 70–80% of individuals with clinical LQTS will have a mutation in a sodium or potassium channel detectable by commercially available genetic testing panels [101–103], the remaining 20–30% will not have an identifiable mutation. In addition, variants of uncertain significance, often due to a lack of functional phenotyping of mutations, are not uncommon. Ultimately, categorizing these variants as disease causing or benign can represent a major research challenge [8]; this can be compounded when several family members harbor similar genetic variants but exhibit little or no evidence of disease. Even when an individual has a clearly identified mutation, opinions as to appropriate medical management may differ, even among cardiologists. Recommendations may include discontinuing strenuous physical activity, which for some patients represents a major change, especially if competitive sports are a major part of their lives. Other recommendations may include regular cardiac monitoring, medications such as b‑blockers, and implantable cardioverter defibrillators (ICDs) [9]. Any of these recommendations may prove to be disruptive to a patient’s lifestyle and have a major impact on family dynamics and plans for the future, as many of these treatment options are life-long. This can raise ethical issues, particularly when the patient is a child or if there are challenges 74
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regarding disclosure or nondisclosure of testing results to family members. An interdisciplinary model represents a comprehensive approach for providing personalized care that integrates these diverse genetic, medical, psychological, social and ethical issues.
MECC interdisciplinary team At the MECC, the interdisciplinary team consists of professionals specializing in clinical genetics and genetic counseling, pediatric and adult cardiology, nursing, psychology and ethics. The team holds a bimonthly clinic and typically consults with two to five families per session. In the case of managing LQTS, these multiple viewpoints are essential. Through taking detailed family histories, clinical geneticists and genetic counselors are able to identify the proband, or the ideal individual to undergo genetic testing, as well as recognize other at-risk individuals. If a disease-causing mutation is found, team members are able to provide genetic counseling and testing services to the appropriate family members. In cases where a variant of uncertain significance is identified, a member of our team who also carries out molecular genetic research conducts additional laboratory research on the functional consequences of the detected mutation. This process, however, may be long and does not always yield informative results; patients are carefully counseled regarding these limitations. Cardiologists are essential for providing the initial clinical diagnosis and overseeing continued medical management through the use of medication, lifestyle modifications and ICDs. Mental health professionals address continued feelings of anxiety, guilt and grief, as many individuals referred to the MECC have a family history of sudden infant death syndrome (SIDS) or sudden unexpected death syndrome, and must grapple with the implications for surviving family members. Finally, our nurse practitioner assists with the clinical management, education, follow-up and continuity of care. Although the ethicist does not usually meet with patients, he frequently consults with the team about issues that arise during the course of their treatment and counseling. Patients are typically referred to the MECC by their cardiologist following a cardiac event or abnormal ECG finding. In addition, a subset of the patient population is provided with the MECC contact information by the medical examiner when he or she notifies a surviving family member of a mutation in one of the genes responsible for LQTS detected on future science group
An interdisciplinary approach to personalized medicine
molecular autopsy. At the initial visit, the team convenes and formulates a plan for the clinical day. Next, the patient typically meets with a nurse, geneticist or genetic counselor, pediatric or adult cardiologist, and psychologist. Depending on the family dynamics and composition, each member of the team may meet with the patient separately or all members may consult simultaneously with the patient. Following the initial consultation, members of the team discuss their findings and recommendations. Then, one or more members of the team present the team’s consensus and personalized recommendations to the patient and his or her family, and formulate a clinical plan.
Case vignettes The following vignettes are drawn from our experiences at the MECC to illustrate the advantages of an interdisciplinary approach to cardiogenetics. Case 1 A teenage girl presented to the MECC with her mother because of a syncopal episode. During her initial appointment, she met with the geneticist, cardiologist and psychologist. ECGs showed an intermittently prolonged QT interval, and the possibility of LQTS was raised. After undergoing genetic counseling and electing to pursue testing, LQTS genetic testing was negative. In the team meeting, the psychologist speculated that the teenage girl might be pregnant. This possibility was not communicated to the family because there were no objective data to confirm this hypothesis. Moreover, the family did not seem ready to contemplate this possibility because the mother continually described her daughter as a “very good girl.” When the mother later informed the team of her daughter’s pregnancy, the team had already anticipated this complicating factor and was prepared to assist the family. Meeting with the whole cardiogenetics team at the initial consult had allowed a strong rapport to be established from the outset. When the patient and her mother were shocked by the news of the pregnancy, our psychologist was able to provide support. One of the challenges the team faced in caring for the patient was the fact that she and her family lived over 2 hours from the MECC, making it impractical for her to go to a high-risk obstetrician located within our medical center. The patient found a highrisk obstetrician closer to her home, but this obstetrician had limited knowledge regarding future science group
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the management of an individual with possible LQTS. Owing to the support that had already been provided to the family by our cardiologist and psychologist, the mother actively engaged our cardiologist, requesting that she confer with her daughter’s obstetrician to provide her with medical expertise specific to cardiac care during pregnancy. The patient and her mother returned to the clinic at 3 months postpartum for further follow-up care. Case 2 A young couple was referred to the MECC because their first child died in the well-baby nursery, 2 days after birth. Autopsy and newborn screening results yielded no information, and the death was classified as SIDS. An uncertain, but probably significant fraction of SIDS cases may be associated with genetic mutations that lead to cardiac arrhythmias [10,11]. The couple wanted to pursue genetic testing as soon as possible so that they could use the results to plan for their next pregnancy. Before meeting with the couple, the team’s greatest concern was the psychological state of the bereaved parents and the extent to which they could take in further information and make informed testing decisions. Because of our interdisciplinary approach, the couple was able to meet with multiple members of our team during their genetic counseling session, including the psychologist, cardiologist, obstetrician–gynecologist and geneticist, who were each able to assess the level of information the couple was ready to hear and absorb. Initially, the team was hesitant to provide indepth genetic and medical information, worried that this information would be overwhelming or difficult to process at such a vulnerable time. After consulting with the couple, however, all team members agreed that they were ready to receive detailed information and prepared to make informed decisions. Our cardiologist assisted the family by working with the medical examiner’s office to obtain post-mortem tissue from the deceased child for genetic testing for LQTS, as well as other genetic channelopathies. The test results were negative for known cardiac arrhythmia-associated mutations. Because no etiology was identified for the infant’s death, the team was unable to provide a precise recurrence risk. Empirical data suggests, however, that in cases of SIDS with an unknown etiology, recurrence risks likely do not exceed the general population risks [12]. The obstetrician– gynecologist assisted the family in preparing for a subsequent pregnancy. After meeting with the www.futuremedicine.com
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couple, it was agreed they would have a consultation with a high-risk obstetrician and deliver at a hospital with a newborn intensive care unit in order to address their anxieties about a next pregnancy. Had the couple met with only one specialist, there may not have been enough time and expertise to provide this level of assessment, support or referrals. Under the interdisciplinary model, the couple was able to have the majority of their questions answered in a single visit and were not required to make multiple visits to the hospital. The couple went on to have a healthy baby. Case 3 A 12-year-old boy was referred to the MECC following three syncopal episodes. On ECG, he was found to have a prolonged QT interval, and genetic testing revealed a class II possibly deleterious mutation for LQTS type 2. His mother was disappointed by the possibility of activity restrictions. Her son excelled at baseball, and she was hoping that he would be able to go to a private high school on a baseball scholarship. The mother became resistant to the prescribed treatments, altered her son’s dose of b‑blockers without consulting with his cardiologist, and considered seeking a second opinion. Both our cardiologist and psychologist played integral roles in addressing the challenges presented by this family’s situation. When the team learned that the patient’s mother was encouraging her son not to take his medications and not to restrict his active lifestyle, our physicians were not able to determine the reasons for this noncompliance. One of our psychologists met with the family and was able to gain valuable insight into the family’s perspective. She learned that one of the reasons for the noncompliance was that the patient had lied about the severity of his symptoms and actually did not want to play baseball. Another reason for this noncompliance, common among children who have chronic health conditions, was that the patient felt that he was differentiating himself from his peers by taking medications. Following these discoveries, lifestyle modifications acceptable to both the patient and his mother were formulated. Case 4 A mother and her three daughters were referred to the MECC because the two older daughters had each experienced serious cardiac events following their second pregnancies; both had an ICD implanted. The youngest daughter is currently asymptomatic. Genetic testing has thus 76
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far been negative, despite a clinical diagnosis of LQTS in the two symptomatic daughters and a significant paternal family history of sudden death. Our interdisciplinary approach was instrumental in providing effective care and promoting understanding of these negative genetic test results. Due to the extensive family history of sudden death and postpartum syncope in both of the older sisters, the team thought that the presence of an inherited deleterious mutation was very likely, even though a mutation was not identified through conventional technology. It was critical that the limitations of current testing options be explained to the family so that they understood the validity of the clinical diagnosis of LQTS and the implicit risk of LQTS for other first-degree relatives. This explanation was delivered by our geneticist. One of the cardiologists on our team also conducts molecular research on heritable cardiac arrhythmias and is pursuing analysis of possible copy number variants through microarray technology and ‘next-generation’ all-exome sequencing to attempt to identify a disease-causing variant in this family with strong Mendelian phenotype, yet negative commercial testing; the results of this testing and the subsequent analysis are pending. The family was extensively counseled regarding the potential to identify incidental genetic findings and variants of uncertain significance. They were also aware that because this testing was conducted on a research basis, further confirmatory testing may be indicated and results may have a very long turnaround time. For this additional testing, a DNA sample from the daughters’ father was needed and significant counseling was required to explain the importance of obtaining a sample of his blood, particularly because he is currently distant from the family. Our psychologist was also essential to the management of this family’s care. One of the daughters has significant depression due to her cardiac condition, and overall, the family’s anxiety level was very high. Our psychologist lent additional support to the family during their appointments at the Center and provided referrals for appropriate follow-up counseling. She was also involved in recruiting the family for the research that may lead to the identification of a disease-causing mutation.
Discussion As more is learned about the human genome and the role of various genes and genetic modifiers on the development of disease, personalized future science group
An interdisciplinary approach to personalized medicine
medicine will play a larger role in routine medical care. Interdisciplinary centers will become more critical in order to provide optimal care in the context of complex genetic, health and psychological concerns. In recognition of the complex medical and psychological needs [13] of affected patients and their families, inter- and multi-disciplinary models have already been adopted for the diagnosis and treatment of several common genetic conditions, such as cystic fibrosis, sickle cell disease and hemophilia [14]. These inter- and multi-disciplinary models have proved to be advantageous for the improvement of medical management through integration of care, informed consent and psychological management. Each of the MECC cases described above highlights an intrinsic advantage of an inter disciplinary center: patients are able to obtain comprehensive and customized care at one site, benefiting from the convenience of meeting with multiple specialists at one time and avoiding multiple appointments, while also benefiting from the integrated expertise of a variety of specialized health professionals. Specific to cardiogenetics, an interdisciplinary model allows the patient to benefit both from the expertise of the cardiologist in identifying ECG findings of LQTS and the expertise of the geneticist or genetic counselor in identifying suspect family histories, thus potentially avoiding a diagnostic odyssey. Interdisciplinary models have been adopted for the medical management of various genetic and nongenetic conditions, and improved patient outcomes have been well documented. Evidence of benefits have included shorter and less expensive hospital stays on a multidisciplinary general medicine inpatient floor [15], and better blood chemistry markers [4] and survival rates [5] in multidisciplinary nephrology clinics as compared with control groups not seen in multidisciplinary settings. Furthermore, national and international treatment guidelines have established interdisciplinary clinics as the standard of care for cystic fibrosis. These interdisciplinary clinics bring together pediatricians, specialists in pulmonary medicine and infectious disease, genetic counselors, respiratory and physical therapists, nurses, social workers and psychologists and nutritionists [14,16,17]. Given this documented success, the adoption of interdisciplinary care models for the use of personalized medicine in the treatment of various conditions warrants further investigation. Another advantage of an interdisciplinary approach is an improved process of informed future science group
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consent, which will become essential as genetic testing becomes more routine. By receiving information from a variety of professionals, patients are able to consider information from different clinical perspectives. Cardiologists weigh in on how genetic testing results may impact the patient’s medical management. Genetics specialists detail the impact these results could have on other members of the family and answer concerns about privacy. A psychologist is also on site if the patient requires further counseling or experiences anxiety about the test results. These complex issues are paralleled, and an informed consent model has been well established, with genetic testing for Huntington’s disease. Due to the enormous psychological impact of Huntington’s disease testing, guidelines have been established recommending that anyone considering presymptomatic testing should meet with a multidisciplinary team consisting of a geneticist, neurologist, social worker, psychologist and a medical ethicist, and that at least a month pass between the initial meeting and diagnostic testing [18,19]. These guidelines specifying a multidisciplinary model have had a significant impact; upon learning more information, 22–43% [20,21] of individuals withdrew from the testing protocol and opted not to pursue genetic testing. Similar sentiments are echoed in the field of genetic testing for HCM. In one study, genetic counselors or geneticists were recognized as best suited for discussing the implications of genetic testing and ensuring informed consent [22]. In another study, many geneticists and cardiologists stated a preference for a team approach between cardiology and genetics when it comes to genetic testing, and the discussion of the implications of the results for the patient and his or her family [23]. Finally, because there is a psychologist on the team at the MECC, we are able to provide immediate psychosocial support. When meeting with the various members of the team, patients have the opportunity to voice their concerns, anxieties and other feelings with a variety of professionals, each of whom have a skill set to provide such basic psychological support. In cases of LQTS, HCM and other inherited cardiac conditions, it has been documented that affected individuals often have high levels of anxiety, worry and uncertainty related to their diagnosis [24]. Furthermore, some of the treatment options associated with LQTS, particularly ICDs, have been associated with anxiety and depression [25]. www.futuremedicine.com
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Often, the severity of these psychological symptoms may require counseling beyond the scope of genetic counselors and clinicians. In this case, these psychological issues are best addressed by trained psychologists [26,27]. A meta-analysis of 37 studies examining the effect of collaborative care for depression found significant improvements in both short- and long-term outcomes [28]. In addition, in the management of HCM, patients treated in a comprehensive center were found to have lower levels of anxiety [29].
Limitations Since the inception of the MECC in January 2010, several limitations have been identified. Some of our specific challenges are related to space restrictions. Patients must go to one floor of the hospital to obtain cardiac testing and to another floor to meet with members of the team, highlighting the fact that current clinical layouts and infrastructure were not designed to facilitate an interdisciplinary model. Additional challenges involve funding for the MECC, as there is usually limited reimbursement for each department.
Moving forward, hospital infrastructure, including layouts of future hospitals and clinics, as well as billing systems, should be designed with interdisciplinary clinics in mind. Another limitation in certain cases is the length of the appointments. Since each patient is meeting with at least three specialists and having multiple cardiac tests performed, appointments may keep patients at the MECC for several hours. Some patients bring young children who may not have the tolerance to wait for long periods of time; others have difficulty taking more than 1 or 2 hours off from work to accommodate the length of the appointment. Another concern is that patients typically receive a large amount of information during this initial visit; a clinician must consider the point at which the patient becomes overwhelmed and can no longer absorb new information. With all of these situations, case-by-case assessments must be made.
Conclusion Interdisciplinary clinics enable collaboration among multiple specialties in order to allow
Executive summary Background An interdisciplinary clinical team consists of professionals from different medical specialties and disciplines who work together to create and execute a personalized treatment plan. An interdisciplinary care model has been adopted, with documented success, for the management of conditions such as diabetes, breast cancer and kidney disease. With an increased availability and uptake of genetic testing and its utility for personalized medicine, there will be a need for interdisciplinary centers. Cardiac conditions with a hereditary component, such as long QT syndrome, are examples of conditions that have complex medical, genetic, ethical and psychosocial issues that would benefit from an interdisciplinary model of care. Montefiore–Einstein Center for Cardiogenetics interdisciplinary team The Montefiore–Einstein Center for Cardiogenetics is an interdisciplinary clinic that includes professionals from clinical genetics and genetic counseling, pediatric and adult cardiology, nursing, psychology and ethics. Patients are typically referred following a cardiac event or abnormal ECG finding, or following the identification of a mutation in one of the genes responsible for long QT syndrome on molecular autopsy. Case vignettes Each of the selected cases illustrates a situation where the patient benefited from the interdisciplinary model. Case 1: teenager presented to the clinic following a syncopal episode and was pregnant – cardiology, psychology (unplanned pregnancy and family dynamics) and obstetrics–gynecology (referral for high-risk management). Case 2: parents following sudden death of their infant – genetics (testing for infant through the medical examiner), psychology (grieving and loss), cardiology (evaluation) and obstetrics–gynecology (planning of future pregnancy). Case 3: 12-year-old boy involved in sports – cardiology (evaluation for syncopal episodes and cardiac management), genetics (genetic testing and gene mutation) and psychology (noncompliance with medications). Case 4: family with an extensive history of syncopal episodes and cardiac arrest – cardiology (evaluation and management), genetics (genetic testing), psychology (high anxiety) and basic research (no detectable mutations). Discussion An interdisciplinary setting enhances customized patient care, the informed consent process and psychosocial support. Conclusion As more is known about the human genome and the uptake of exome sequencing increases, there will be a greater need for interdisciplinary clinics to address emerging healthcare challenges in the era of personalized medicine.
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personalized medicine to be delivered to families affected by complex inherited medical conditions. We have provided care to numerous patients for whom the interdisciplinary model has proved beneficial. As we gain more experience and receive additional feedback from our patients, we are continuing to modify the structures and procedures of the Center. By combining our experiences at the MECC with those of other interdisciplinary clinics, we hope to create a comprehensive model for the care of individuals with complex genetic conditions.
Future perspective As more is known about the human genome and exome sequencing becomes both more available and more affordable, there will be an increased need for interdisciplinary clinics to address the complex genetic, medical, ethical and psychosocial issues that will arise with this increase in testing. Even though the benefits of an interdisciplinary model of care have been documented Papers of special note have been highlighted as: n of interest nn of considerable interest 1
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Maislos M, Weisman D. Multidisciplinary approach to patients with poorly controlled Type 2 diabetes mellitus: a prospective, randomized study. Acta Diabetol. 41(2), 44–48 (2004). Pichert G, Jacobs C, Jacobs I et al. Novel onestop multidisciplinary follow-up clinic significantly improves cancer risk management in BRCA1/2 carriers. Fam. Cancer 9(3), 313– 319 (2010). Pichert et al. implemented a multidisciplinary clinic for individuals with a BRCA1 or 2 mutation and noted that it improved cancer risk management, as well as provided information and psychosocial support. Castellanos MR, Conte J, Fadel DA et al. Improving access to breast health services with an interdisciplinary model of care. Breast J. 14(4), 353–356 (2008). Menon S, Valentini RP, Kapur G et al. Effectiveness of a multidisciplinary clinic in managing children with chronic kidney disease. Clin. J. Am. Soc. Nephrol. 4(7), 1170–1175 (2009). Curtis BM, Ravani P, Malberti F et al. The short- and long-term impact of multidisciplinary clinics in addition to standard nephrology care on patient outcomes. Nephrol. Dial. Transplant. 20(1), 147–154 (2005). Stokols D, Hall KL, Taylor BK et al. The science of team science: overview of the
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in the literature, significant barriers to providing this care will still exist, namely in hospital and insurance infrastructure. Significant modifications to the current model of care would need to be made in order to facilitate the delivery of interdisciplinary care. Disclaimer The content of this article is solely the responsibility of the authors and does not necessarily represent the official views of the National Heart, Lung, and Blood Institute or the NIH.
Financial & competing interests disclosure The project described is supported by Award Number RC1HL100756 from the National Heart, Lung, and Blood Institute. The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed. No writing assistance was utilized in the production of this manuscript. field and introduction to the supplement. Am. J. Prev. Med. 35(Suppl. 2), S77–S89 (2008).
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Louise B Silverstein Ferkauf Graduate School of Psychology, Yeshiva University, 1300 Morris Park Avenue, Bronx, NY, USA
Nadia Hidayatallah Ferkauf Graduate School of Psychology, Yeshiva University, 1300 Morris Park Avenue, Bronx, NY, USA
David Wasserman Center for Ethics at Yeshiva University, 500 W 185th Street, New York, NY, USA
Esma Paljevic Pediatric Heart Center, Children’s Hospital at Montefiore, 3415 Bainbridge Avenue, Bronx, NY, USA
Lilian Cohen Division of Medical Genetics, Weill Cornell Medical College/New York Presbyterian Hospital, 505 East 70th Street, Helmsley Tower, 3rd Floor, New York, NY, USA
Christine A Walsh Pediatric Dysrhythmia Center, Children’s Hospital at Montefiore, 3415 Bainbridge Avenue, Bronx, NY, USA
Kathleen E Erskine Department of Obstetrics & Gynecology & Women’s Health, Division of Reproductive Genetics, Albert Einstein College of Medicine/Montefiore Medical Center, 1695 Eastchester Road, Suite 301, Bronx, NY, USA
Thomas McDonald Departments of Medicine/Cardiology & Molecular Pharmacology, Albert Einstein College of Medicine, 1300 Morris Park Avenue, Forchheimer G35, Bronx, NY, USA
Eleanor Griffith University OBGYN Associates, Ambulatory Care Center, C1673, UMDNJ, 140 Bergen Street, Newark, NJ 07103, USA
Robert W Marion Divisions of Developmental Medicine & Genetics, Children’s Hospital at Montefiore, 3415 Bainbridge Avenue, Bronx, NY, USA
Siobhan M Dolan Department of Obstetrics & Gynecology & Women’s Health, Division of Reproductive Genetics, Albert Einstein College of Medicine/Montefiore Medical Center, 1300 Morris Park Avenue, Mazer 634, Bronx, NY 10461 USA
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www.genedx.com/test-catalog/disorders/ long-qt-syndrome-lqts (Accessed 21 November 2012). 103 Romano–Ward syndrome – GeneReviews –
NCBI bookshelf. www.ncbi.nlm.nih.gov/books/NBK1129/ (Accessed 21 November 2012).
Affiliations
Living with long QT syndrome: a qualitative study of coping with increased risk of sudden cardiac death. J. Genet. Couns. 17, 489–498 (2008). 25 Thomas SA, Friedmann E, Kao CW et al.
Marina Stolerman Private Practice, 425 E 86th Street, Suite 1A, New York, NY, USA
Sutton AJ. Collaborative care for depression: a cumulative meta-analysis and review of longer-term outcomes. Arch. Intern. Med. 166(21), 2314–2321 (2006).
22 Christiaans I, van Langen IM, Birnie E,
Bonsel GJ, Wilde AA, Smets EM. Genetic counseling and cardiac care in predictively tested hypertrophic cardiomyopathy mutation carriers: the patients’ perspective. Am. J. Med. Genet. A 149A(7), 1444–1451 (2009).
28 Gilbody S, Bower P, Fletcher J, Richards D,
21 Goizet C, Lesca G, Durr A; French Group for
Presymptomatic Testing in Neurogenetic Disorders. Presymptomatic testing in Huntington’s disease and autosomal dominant cerebellar ataxias. Neurology 59(9), 1330–1336 (2002).
Medicine/Montefiore Medical Center, 1300 Morris Park Avenue, Mazer 632, Bronx, NY, USA
Nicole DeGroat Department of Obstetrics & Gynecology & Women’s Health, Division of Reproductive Genetics, Albert Einstein College of
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