VOLUME
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NUMBER
7
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MARCH
1
2014
JOURNAL OF CLINICAL ONCOLOGY
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Is It Time to Embrace Telephone Genetic Counseling in the Oncology Setting? Lisa Madlensky, University of California, San Diego Moores Cancer Center; University of California, San Diego, La Jolla, CA See accompanying article on page 618
Genetic counseling for hereditary breast/ovarian cancer (HBOC) and BRCA1/2 genetic testing is routine in some settings but difficult to access in others. The content of an initial cancer genetic counseling session includes many elements1,2 and typically takes an hour or more. Deeply rooted in the practice of genetic counseling is attention to the emotions of patients that arise when discussing concerns about one’s own health, the illnesses of family members, and worries about passing disease risks on to children. In person, the genetic counselor can use visual cues to assess emotional needs, but what happens when genetic counseling is conducted by telephone? Do patients experience more distress? In the article that accompanies this editorial, Schwartz et al3 present timely and compelling data demonstrating that telephone genetic counseling is not inferior to standard in-person genetic counseling. Women referred for BRCA1/2 genetic counseling were randomly assigned to either standard genetic counseling or telephone genetic counseling, and the results showed that both groups benefited equally from genetic counseling, with similar increases in knowledge and decreases in decisional conflict and distress. These findings provide persuasive evidence that genetic counseling is a beneficial component of the BRCA1/2 testing process, whether carried out in person or by telephone. There are some important caveats with respect to these findings. The most common reason for declining participation in this study was “not interested in telephone counseling.” Although patients in rural areas may not have ready access to in-person genetic counseling, for those patients who do have access, the best outcomes may be achieved when patients are given a choice. For example, some patients may not have the opportunity to have a phone call in private at work or at home and may prefer in-person genetic counseling. Conversely, many patients may prefer the option of telephone genetic counseling. Travel time is an obvious consideration for many patients (particularly those in rural or underserved areas), but there are other valid reasons to choose telephone genetic counseling. Some patients have strong emotional reactions to medical facilities where patients with cancer are treated, and the option of being able to avoid a clinic where family members may have been previously treated is highly desirable to many patients. Although the trial reported by Schwartz et al3 is the only study to date that included both pretest and post-test telephone genetic counseling, to our knowledge, there are additional data from several smaller pilot studies that have also demonstrated high levels of satisfaction with telephone genetic counseling.4,5 It is highly likely that Journal of Clinical Oncology, Vol 32, No 7 (March 1), 2014: pp 611-612
providing patients with a choice will lead to higher genetic counseling uptake and higher patient satisfaction than limiting patients to one service model. Additional studies will need to explore the impact of having such choices on patient outcomes. Although the participants in this study were clearly appropriate for BRCA1/2 genetic counseling, they may not be representative of the patients referred to a typical cancer genetic counseling practice. Individuals referred for urgent testing, with metastatic disease or with less than a 10% risk of having a BRCA mutation were excluded. In practice, those needing urgent testing might actually benefit most from having access to telephone genetic counseling, given that the wait time for a consultation could be expected to be minimal. Participants were also predominantly non-Hispanic white and highly educated, and most had a previous cancer diagnosis. A full third of participants had family members with a known BRCA mutation, and nearly a third had Jewish ancestry. Although genetic counseling is a highly personalized undertaking, BRCA testing in the setting of a known familial mutation, Jewish ancestry, or for patients with cancer is generally more straightforward than testing for unaffected women, lower-risk women, or for women with non-Jewish ancestry; more time must be spent discussing the possibilities of unclassified variants and of a socalled uninformative result for many patients. Further studies in settings with more diverse patient populations may shed light on whether there are particular types of patients who benefit more when complex topics are discussed in person versus over the phone. Test uptake was slightly lower in the telephone genetic counseling group. As the authors note, this may result from the convenience of being able to provide a sample for testing immediately after the inperson consult, or it may have resulted from the decliners having lower risks/less interest in testing. However, the lower uptake rate could also be related to an as-yet unknown difference between telephone and in-person genetic counseling. Future studies that look at telephone genetic counseling might try to obtain reasons for declining testing to shed light on this difference. One important component of this study was the use of visual aids that were sent to the telephone genetic counseling group before their consultation. In a world in which cell phone use is ubiquitous and landline use is decreasing, setting up the telephone genetic counseling appointment to approximate in-person genetic counseling as much as possible is essential. This includes ensuring that the patient understands the expected length of the consult and the importance of minimizing distractions at the time of the call. Using visual aids while on a © 2014 by American Society of Clinical Oncology
Information downloaded from jco.ascopubs.org and provided by at Flinders UNI SA 26503 on October 4, 2014 from Copyright © 2014 American Society of Clinical Oncology. All rights reserved. 129.96.252.188
611
Editorial
telephone call gives the consultation some structure and can help the patient to understand complex information when visual cues from the genetic counselor are not available. Randomized trials in genetic counseling are few and far between. This is partly because standardizing novel genetic counseling interventions, let alone usual care, is challenging as a result of the high level of personalization that is inherent to genetic counseling. However, BRCA1/2 genetic testing is a relatively common indication for referral to genetic counseling, and there are standards for the content of a cancer genetics consultation1,2 such that a high-quality trial is feasible. Although not described in the results article, the study protocol article by Peshkin et al6 describes the extensive quality assurance measures that were developed as part of the study. Audio recordings, counselor debriefings and 30-item checklists were used to ensure that all consults contained the essential elements of genetic counseling, however administered. This study was rigorous in its standardization and use of quality measures, and provides an example of a high-quality protocol that could likely be adapted to trials of genetic counseling in settings beyond BRCA1/2 consultations. Cigna recently mandated that genetic counseling by a genetics specialist be completed before approval of coverage for BRCA1/2 testing. This new policy has been met with displeasure by some in the oncology community7 and welcomed by the genetic counseling community.8 Although these differing opinions have the potential to produce a sense of competition between oncologists and genetic counselors, I would argue that it presents a timely opportunity for new collaborations and the development of innovative service delivery models. The results of the trial by Schwartz et al3 should provide reassurance that telephone genetic counseling is an appropriate mechanism for pre- and post-test genetic counseling. The recent American Society of Clinical Oncology statement7 suggests that requiring genetic counseling by a genetics professional before genetic testing somehow places patients at risk. The results of this trial3 demonstrate that, in fact, genetic counseling before testing leads to good patientcentered outcomes regardless of the service delivery method used. Recent data from Pal et al9 show that patients who have genetic counseling for BRCA1/2 performed by a nongenetics provider have lower rates of appropriate medical management after a positive genetic test result. This same study found that patients reported much shorter genetic counseling consultation times with nongenetics providers. The best patient outcomes are likely to be realized when oncologists carry out the critical task of identifying those patients who are appropriate for genetic counseling, ensuring that all elements of cancer genetic counseling are met (regardless of which provider carries out the genetic counseling), and advocating for increased access to high-quality genetic counseling services. Genetic counselors and oncologists play highly integrated and complementary roles in the provision of high-quality patient care. With increasingly complex genetic test menus and new challenges with next-generation and direct-toconsumer testing,10 both professions should be looking for ways to partner rather than to compete.
The other implication of the study by Schwartz et al3 is that of reimbursement for telephone genetic counseling. Aetna currently reimburses genetic counselors for phone consultations,4 but other payers have not yet followed suit. The cancer genetic test offerings available to patients are rapidly evolving, and access to genetics specialists is more important than ever to ensure that patients are receiving appropriate pretest information, and that the correct test is being ordered. Improving insurance coverage for telephone genetic counseling will help patients access these services in a timely manner, regardless of where they may live. Notably, the economic analysis from Schwartz et al also suggests that there are cost savings that will be realized by patients (most of which are related to travel expenses). The results of this well-designed trial should provide reassurance for the oncology and genetic counseling communities alike, as well as patients. Telephone genetic counseling for BRCA1/2 is already happening in a wide range of service delivery models.11 It is time to embrace telephone genetic counseling as a legitimate and effective way to increase patient access to genetic counseling services. AUTHOR’S DISCLOSURES OF POTENTIAL CONFLICTS OF INTEREST
The author(s) indicated no potential conflicts of interest. REFERENCES 1. American Society of Clinical Oncology: American Society of Clinical Oncology policy statement update: Genetic testing for cancer susceptibility. J Clin Oncol 21:2397-2406, 2003 2. Berliner JL, Fay AM, Cummings SA, et al: NSGC practice guideline: Risk assessment and genetic counseling for hereditary breast and ovarian cancer. J Genet Couns 22:155-163, 2013 3. Schwartz MD, Valdimarsdottir HB, Peshkin BN, et al: Randomized noninferiority trial of telephone versus in-person genetic counseling for hereditary breast and ovarian cancer. J Clin Oncol 32:618-626, 2014 4. Sutphen R, Davila B, Shappell H, et al: Real world experience with cancer genetic counseling via telephone. Fam Cancer 9:681-689, 2010 5. Platten U, Rantala J, Lindblom A, et al: The use of telephone in genetic counseling versus in-person counseling: A randomized study on counselees’ outcome. Fam Cancer 11:371-379, 2012 6. Peshkin BN, Demarco TA, Graves KD, et al: Telephone genetic counseling for high-risk women undergoing BRCA1 and BRCA2 testing: Rationale and development of a randomized controlled trial. Genet Test 12:37-52, 2008 7. American Society of Clinical Oncology: New Cigna policy on cancer genetic testing poses risks to high quality cancer care. www.asco.org/advocacy/newcigna-policy-cancer-genetic-testing-poses-risks-high-quality-cancer-care 8. National Society of Genetic Counselors: Genetic counseling program gives Cigna customers increased access to genetic counselors. http://nsgc.org/p/bl/et/ blogid⫽45&blogaid⫽20 9. Pal T, Lee JH, Besharat A, et al: Modes of delivery of genetic testing services and the uptake of cancer risk management strategies in BRCA1 and BRCA2 carriers. Clin Genet 85:49-53, 2013 10. Robson ME, Storm CD, Weitzel J, et al: American Society of Clinical Oncology policy statement update: Genetic and genomic testing for cancer susceptibility. J Clin Oncol 28:893-901, 2010 11. Trepanier AM, Allain DC: Models of service delivery for cancer genetic risk assessment and counseling. J Genet Couns [epub ahead of print on October 26, 2013]
DOI: 10.1200/JCO.2013.53.8975; published online ahead of print at www.jco.org on January 21, 2014
■ ■ ■
612
© 2014 by American Society of Clinical Oncology
JOURNAL OF CLINICAL ONCOLOGY
Information downloaded from jco.ascopubs.org and provided by at Flinders UNI SA 26503 on October 4, 2014 from Copyright © 2014 American Society of Clinical Oncology. All rights reserved. 129.96.252.188
32
䡠
NUMBER
7
䡠
MARCH
1
2014
JOURNAL OF CLINICAL ONCOLOGY
E
D
I
T
O
R
I
A
L
Is It Time to Embrace Telephone Genetic Counseling in the Oncology Setting? Lisa Madlensky, University of California, San Diego Moores Cancer Center; University of California, San Diego, La Jolla, CA See accompanying article on page 618
Genetic counseling for hereditary breast/ovarian cancer (HBOC) and BRCA1/2 genetic testing is routine in some settings but difficult to access in others. The content of an initial cancer genetic counseling session includes many elements1,2 and typically takes an hour or more. Deeply rooted in the practice of genetic counseling is attention to the emotions of patients that arise when discussing concerns about one’s own health, the illnesses of family members, and worries about passing disease risks on to children. In person, the genetic counselor can use visual cues to assess emotional needs, but what happens when genetic counseling is conducted by telephone? Do patients experience more distress? In the article that accompanies this editorial, Schwartz et al3 present timely and compelling data demonstrating that telephone genetic counseling is not inferior to standard in-person genetic counseling. Women referred for BRCA1/2 genetic counseling were randomly assigned to either standard genetic counseling or telephone genetic counseling, and the results showed that both groups benefited equally from genetic counseling, with similar increases in knowledge and decreases in decisional conflict and distress. These findings provide persuasive evidence that genetic counseling is a beneficial component of the BRCA1/2 testing process, whether carried out in person or by telephone. There are some important caveats with respect to these findings. The most common reason for declining participation in this study was “not interested in telephone counseling.” Although patients in rural areas may not have ready access to in-person genetic counseling, for those patients who do have access, the best outcomes may be achieved when patients are given a choice. For example, some patients may not have the opportunity to have a phone call in private at work or at home and may prefer in-person genetic counseling. Conversely, many patients may prefer the option of telephone genetic counseling. Travel time is an obvious consideration for many patients (particularly those in rural or underserved areas), but there are other valid reasons to choose telephone genetic counseling. Some patients have strong emotional reactions to medical facilities where patients with cancer are treated, and the option of being able to avoid a clinic where family members may have been previously treated is highly desirable to many patients. Although the trial reported by Schwartz et al3 is the only study to date that included both pretest and post-test telephone genetic counseling, to our knowledge, there are additional data from several smaller pilot studies that have also demonstrated high levels of satisfaction with telephone genetic counseling.4,5 It is highly likely that Journal of Clinical Oncology, Vol 32, No 7 (March 1), 2014: pp 611-612
providing patients with a choice will lead to higher genetic counseling uptake and higher patient satisfaction than limiting patients to one service model. Additional studies will need to explore the impact of having such choices on patient outcomes. Although the participants in this study were clearly appropriate for BRCA1/2 genetic counseling, they may not be representative of the patients referred to a typical cancer genetic counseling practice. Individuals referred for urgent testing, with metastatic disease or with less than a 10% risk of having a BRCA mutation were excluded. In practice, those needing urgent testing might actually benefit most from having access to telephone genetic counseling, given that the wait time for a consultation could be expected to be minimal. Participants were also predominantly non-Hispanic white and highly educated, and most had a previous cancer diagnosis. A full third of participants had family members with a known BRCA mutation, and nearly a third had Jewish ancestry. Although genetic counseling is a highly personalized undertaking, BRCA testing in the setting of a known familial mutation, Jewish ancestry, or for patients with cancer is generally more straightforward than testing for unaffected women, lower-risk women, or for women with non-Jewish ancestry; more time must be spent discussing the possibilities of unclassified variants and of a socalled uninformative result for many patients. Further studies in settings with more diverse patient populations may shed light on whether there are particular types of patients who benefit more when complex topics are discussed in person versus over the phone. Test uptake was slightly lower in the telephone genetic counseling group. As the authors note, this may result from the convenience of being able to provide a sample for testing immediately after the inperson consult, or it may have resulted from the decliners having lower risks/less interest in testing. However, the lower uptake rate could also be related to an as-yet unknown difference between telephone and in-person genetic counseling. Future studies that look at telephone genetic counseling might try to obtain reasons for declining testing to shed light on this difference. One important component of this study was the use of visual aids that were sent to the telephone genetic counseling group before their consultation. In a world in which cell phone use is ubiquitous and landline use is decreasing, setting up the telephone genetic counseling appointment to approximate in-person genetic counseling as much as possible is essential. This includes ensuring that the patient understands the expected length of the consult and the importance of minimizing distractions at the time of the call. Using visual aids while on a © 2014 by American Society of Clinical Oncology
Information downloaded from jco.ascopubs.org and provided by at Flinders UNI SA 26503 on October 4, 2014 from Copyright © 2014 American Society of Clinical Oncology. All rights reserved. 129.96.252.188
611
Editorial
telephone call gives the consultation some structure and can help the patient to understand complex information when visual cues from the genetic counselor are not available. Randomized trials in genetic counseling are few and far between. This is partly because standardizing novel genetic counseling interventions, let alone usual care, is challenging as a result of the high level of personalization that is inherent to genetic counseling. However, BRCA1/2 genetic testing is a relatively common indication for referral to genetic counseling, and there are standards for the content of a cancer genetics consultation1,2 such that a high-quality trial is feasible. Although not described in the results article, the study protocol article by Peshkin et al6 describes the extensive quality assurance measures that were developed as part of the study. Audio recordings, counselor debriefings and 30-item checklists were used to ensure that all consults contained the essential elements of genetic counseling, however administered. This study was rigorous in its standardization and use of quality measures, and provides an example of a high-quality protocol that could likely be adapted to trials of genetic counseling in settings beyond BRCA1/2 consultations. Cigna recently mandated that genetic counseling by a genetics specialist be completed before approval of coverage for BRCA1/2 testing. This new policy has been met with displeasure by some in the oncology community7 and welcomed by the genetic counseling community.8 Although these differing opinions have the potential to produce a sense of competition between oncologists and genetic counselors, I would argue that it presents a timely opportunity for new collaborations and the development of innovative service delivery models. The results of the trial by Schwartz et al3 should provide reassurance that telephone genetic counseling is an appropriate mechanism for pre- and post-test genetic counseling. The recent American Society of Clinical Oncology statement7 suggests that requiring genetic counseling by a genetics professional before genetic testing somehow places patients at risk. The results of this trial3 demonstrate that, in fact, genetic counseling before testing leads to good patientcentered outcomes regardless of the service delivery method used. Recent data from Pal et al9 show that patients who have genetic counseling for BRCA1/2 performed by a nongenetics provider have lower rates of appropriate medical management after a positive genetic test result. This same study found that patients reported much shorter genetic counseling consultation times with nongenetics providers. The best patient outcomes are likely to be realized when oncologists carry out the critical task of identifying those patients who are appropriate for genetic counseling, ensuring that all elements of cancer genetic counseling are met (regardless of which provider carries out the genetic counseling), and advocating for increased access to high-quality genetic counseling services. Genetic counselors and oncologists play highly integrated and complementary roles in the provision of high-quality patient care. With increasingly complex genetic test menus and new challenges with next-generation and direct-toconsumer testing,10 both professions should be looking for ways to partner rather than to compete.
The other implication of the study by Schwartz et al3 is that of reimbursement for telephone genetic counseling. Aetna currently reimburses genetic counselors for phone consultations,4 but other payers have not yet followed suit. The cancer genetic test offerings available to patients are rapidly evolving, and access to genetics specialists is more important than ever to ensure that patients are receiving appropriate pretest information, and that the correct test is being ordered. Improving insurance coverage for telephone genetic counseling will help patients access these services in a timely manner, regardless of where they may live. Notably, the economic analysis from Schwartz et al also suggests that there are cost savings that will be realized by patients (most of which are related to travel expenses). The results of this well-designed trial should provide reassurance for the oncology and genetic counseling communities alike, as well as patients. Telephone genetic counseling for BRCA1/2 is already happening in a wide range of service delivery models.11 It is time to embrace telephone genetic counseling as a legitimate and effective way to increase patient access to genetic counseling services. AUTHOR’S DISCLOSURES OF POTENTIAL CONFLICTS OF INTEREST
The author(s) indicated no potential conflicts of interest. REFERENCES 1. American Society of Clinical Oncology: American Society of Clinical Oncology policy statement update: Genetic testing for cancer susceptibility. J Clin Oncol 21:2397-2406, 2003 2. Berliner JL, Fay AM, Cummings SA, et al: NSGC practice guideline: Risk assessment and genetic counseling for hereditary breast and ovarian cancer. J Genet Couns 22:155-163, 2013 3. Schwartz MD, Valdimarsdottir HB, Peshkin BN, et al: Randomized noninferiority trial of telephone versus in-person genetic counseling for hereditary breast and ovarian cancer. J Clin Oncol 32:618-626, 2014 4. Sutphen R, Davila B, Shappell H, et al: Real world experience with cancer genetic counseling via telephone. Fam Cancer 9:681-689, 2010 5. Platten U, Rantala J, Lindblom A, et al: The use of telephone in genetic counseling versus in-person counseling: A randomized study on counselees’ outcome. Fam Cancer 11:371-379, 2012 6. Peshkin BN, Demarco TA, Graves KD, et al: Telephone genetic counseling for high-risk women undergoing BRCA1 and BRCA2 testing: Rationale and development of a randomized controlled trial. Genet Test 12:37-52, 2008 7. American Society of Clinical Oncology: New Cigna policy on cancer genetic testing poses risks to high quality cancer care. www.asco.org/advocacy/newcigna-policy-cancer-genetic-testing-poses-risks-high-quality-cancer-care 8. National Society of Genetic Counselors: Genetic counseling program gives Cigna customers increased access to genetic counselors. http://nsgc.org/p/bl/et/ blogid⫽45&blogaid⫽20 9. Pal T, Lee JH, Besharat A, et al: Modes of delivery of genetic testing services and the uptake of cancer risk management strategies in BRCA1 and BRCA2 carriers. Clin Genet 85:49-53, 2013 10. Robson ME, Storm CD, Weitzel J, et al: American Society of Clinical Oncology policy statement update: Genetic and genomic testing for cancer susceptibility. J Clin Oncol 28:893-901, 2010 11. Trepanier AM, Allain DC: Models of service delivery for cancer genetic risk assessment and counseling. J Genet Couns [epub ahead of print on October 26, 2013]
DOI: 10.1200/JCO.2013.53.8975; published online ahead of print at www.jco.org on January 21, 2014
■ ■ ■
612
© 2014 by American Society of Clinical Oncology
JOURNAL OF CLINICAL ONCOLOGY
Information downloaded from jco.ascopubs.org and provided by at Flinders UNI SA 26503 on October 4, 2014 from Copyright © 2014 American Society of Clinical Oncology. All rights reserved. 129.96.252.188
