Editorial
Ethics and clinical utility of direct-to-consumer genetic tests In the past few years, direct‑to‑consumer genetic test (DTC‑GT) has been growing at a rapid pace all around the world including India. DTC‑GT refers to advocacy and selling of genetic tests directly to the public without the involvement of medical doctors or genetic counselors. The aim of DTC‑GT is to inform the public regarding genetic tests offered by a commercial laboratory that can provide useful information to them about their risk of developing particular diseases; therapeutic response or adverse reaction to certain drugs; ancestry; and delving into curiosity about self. This is achieved through promotional campaigns or advertisement in electronic, print, and social media and through the company websites. Sample collection kit, which is usually in the form of saliva, is sent directly to the buyer who then returns the sample to the lab for genetic analysis. On this sample genetic analysis is performed which is often limited to single nucleotide polymorphism (SNP) analysis or the more expensive DTC‑GT employs next generation sequencing (NGS) of exome of genome. The results are returned directly to the buyer with the findings of genetic analysis and its prediction on disease risks and other health outcomes. Following criticism, some DTC‑GT companies have started offering limited genetic counseling avenues after disclosing the test results. However, formal consultation and counseling before and after the genetic test is usually outside the scope of DTC genetic testing. Like many advances in the field of healthcare, DTC‑GT too is a double‑edged sword with proponents as well as strong opponents. The case was highlighted when the United States Food and Drug Administration (USFDA) sent a warning letter in November 2013 to the leading DTC genetics company called 23andMe.[1,2] A hard hitting editorial in Nature[1] described the episode as “US regulators dropped a bombshell on the genetic‑testing start‑up 23andMe in an exasperated cease‑and‑desist letter that prompted a fast and contrite response from the company...”. 23andMe which by then had provided Personal Genome Service to almost half a million people was instructed by FDA to stop marketing its Saliva Collection Kit and Personal
Genome Service until such time as it receives FDA marketing authorization. 23andMe now returns only information on ancestry and raw data of the gene variants identified without describing their health implications. Major professional bodies like American College of Medical Genetics[3] and American Society for Human Genetics[4] have not changed their cautionary stand for DTC genetic testing. It is not uncommon for members of the public, families with hereditary conditions, consumer right activists, ethicists, medical professionals, and scientists to take contrarian views on DTC marketing of genetic testing. DTC genetic testing is as much a reality as the realization that regulators and medical profession cannot in the long run prevent people to learn more about their genetic makeup for various reasons. However, keeping in mind the interest of public and patients, doctors and regulators cannot let DTC‑GT commercial enterprises a free run in the name of revolutionizing genomic health. Based on my experiences of caring for and counseling a large number of hereditary cancer families, I feel tighter regulations and constant monitoring of DTC genetic testing is as necessary as for any other medical test or intervention that is allowed over the counter sale or public promotion. The line of argument on both sides is very standard. I must also admit that quite often when I share my views on DTC promotion of genetic testing in academic or public forums, I am surprised by vociferous counterarguments from people whom I would have imagined to be on my side of the argument. Perhaps the field is now like an evolving cult with people from all quarters joining and leaving it all the time. The two major sticking points in the argument over DTC are the autonomy of the person purchasing genetic testing services and the role of healthcare professionals in ensuring maximum benefit and minimum harm to the public with medical tests and procedures.
Rajiv Sarin Department of Radiation Oncology, Tata Memorial Hospital, Parel, Mumbai, Maharashtra, India For correspondence: Dr. Rajiv Sarin, Department of Radiation Oncology, Tata Memorial Hospital, Parel, Mumbai - 400 012, Maharashtra, India. E-mail: rsarin@actrec. gov.in
Access this article online Website: www.cancerjournal.net DOI: 10.4103/0973-1482.155088 PMID: *** Quick Response Code:
The argument of autonomy runs both ways. Autonomy would be affected if the government or professional bodies enforce regulations which prevent a person to know through the DTC route;
Journal of Cancer Research and Therapeutics - January-March 2015 - Volume 11 - Issue 1
1
Sarin: DTC
what is their genetic makeup, which in some cases may lead to knowing their health risks and accompanying lifestyle change or medical interventions. From another perspective, autonomy of this person would also be affected if DTC genetic testing guides them to make a major life or health choice decision based on information which is incomplete, misleading, or too complex to be understood without medical consultation and genetic counseling. If one argues against a free license to DTC commercial genetics lab marketing their gene tests to public, will they support similar free license to positron emission tomography‑computed tomography (PET‑CT) centers marketing their scans to the public at large. If one argues why should someone else decide if a person wants to know their genetic makeup irrespective of its medical relevance; can they also argue if a healthy person wants to have yearly PET‑CT to know what is going on in their body? Is genetic analysis not a medical test? If autonomy of the individual has to be balanced against medical relevance for yearly PET‑CT for public; why not for genetic analysis? Like any other medical investigation, one needs to know the clinical utility and scientific validity of genetic tests in various contexts.[5] Most DTC genetic analysis platforms will miss many disease causing gene variants in diseases where accurate genetic analysis is most relevant—the Mendelian disorders. For the SNPs that are easily detected and reported in DTC‑GT reports, the risk association with a particular disease is small and generally influences by environment and ethnic background. The clinical utility of genomic analysis should not be shown with anecdotal cases but with valid data on how it can improve clinical outcome in a cohort of individuals with certain characteristics like age, gender, or disease condition. All health‑related information whether they are blood tests, radiological examinations, or psychometric evaluation; has to be critically evaluated in a particular context. Out of context they may be misleading and lead to erroneous conclusions and result in wrong advice and treatment. Why only some drugs and devices are allowed to be sold to the public without prescription, over‑the‑counter in medical or general stores. Does it not limit autonomy of the public who are intelligent enough to find it out for themselves through their friends and internet? The complexities involved in ordering,
2
interpreting, and acting upon genetic tests may be as complex as many other medical tests, devices, and drugs. With gene sequencing technology becoming much faster and inexpensive and the internet pervading all aspects of our lives; it would be foolish to think that in years to come, regulation can stop people from knowing their genetic makeup if they wish to. When this becomes widespread, the medical practice will go through a major turmoil dealing with so many ‘worried well’ persons seeking their professional advice to understand what their DTC gene tests mean and what should be done. Till we reach the stage of cascading confusion, healthcare professionals including genetic counselors, clinical geneticists, and disease specialists such as oncologists will continue to guide people if they have a distinct probability of harboring a medically relevant genetic variant and how to act upon finding a variant. We want the technology to grow in leaps and bounds, but it should not promise what it cannot do. The Nature editorial concludes that, “It seems, then, that 23andMe’s experience with the FDA is less about the growing pains of a new industry than about affirming a principle—the need for truth in advertising—that is as old as business itself”.[1] REFERENCES 1. The FDA and me. Nature 2013;504:7‑8. 2. Yim SH, Chung YJ. Reflections on the US FDA’s Warning on Direct‑to‑Consumer Genetic Testing. Genomics Inform 2014;12:151‑5. 3. A m e r i c a n C o l l e g e o f M e d i c a l G e n e t i c s S t a t e m e n t o n Direct‑to‑Consumer Genetic Testing. Available from: https://www. acmg.net/ [Last accessed on 2015 Mar 26]. 4. Hudson K, Javitt G, Burke W, Byers P. American Society of Human Genetics Social Issues Committee. ASHG Statement* on direct‑to‑consumer genetic testing in the united states. Obstet Gynecol 2007;110:1392‑5. 5. Wade CH, Wilfond BS. Ethical and clinical practice considerations for genetic counselors related to direct‑to‑consumer marketing of genetic tests. Am J Med Genet C Semin Med Genet 2006;142C: 284‑92.
Cite this article as: Sarin R. Ethics and clinical utility of direct-toconsumer genetic tests. J Can Res Ther 2015;11:1-2. Source of Support: Nil, Conflict of Interest: None declared.
Journal of Cancer Research and Therapeutics - January-March 2015 - Volume 11 - Issue 1
Copyright of Journal of Cancer Research & Therapeutics is the property of Medknow Publications & Media Pvt. Ltd. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use.
Ethics and clinical utility of direct-to-consumer genetic tests In the past few years, direct‑to‑consumer genetic test (DTC‑GT) has been growing at a rapid pace all around the world including India. DTC‑GT refers to advocacy and selling of genetic tests directly to the public without the involvement of medical doctors or genetic counselors. The aim of DTC‑GT is to inform the public regarding genetic tests offered by a commercial laboratory that can provide useful information to them about their risk of developing particular diseases; therapeutic response or adverse reaction to certain drugs; ancestry; and delving into curiosity about self. This is achieved through promotional campaigns or advertisement in electronic, print, and social media and through the company websites. Sample collection kit, which is usually in the form of saliva, is sent directly to the buyer who then returns the sample to the lab for genetic analysis. On this sample genetic analysis is performed which is often limited to single nucleotide polymorphism (SNP) analysis or the more expensive DTC‑GT employs next generation sequencing (NGS) of exome of genome. The results are returned directly to the buyer with the findings of genetic analysis and its prediction on disease risks and other health outcomes. Following criticism, some DTC‑GT companies have started offering limited genetic counseling avenues after disclosing the test results. However, formal consultation and counseling before and after the genetic test is usually outside the scope of DTC genetic testing. Like many advances in the field of healthcare, DTC‑GT too is a double‑edged sword with proponents as well as strong opponents. The case was highlighted when the United States Food and Drug Administration (USFDA) sent a warning letter in November 2013 to the leading DTC genetics company called 23andMe.[1,2] A hard hitting editorial in Nature[1] described the episode as “US regulators dropped a bombshell on the genetic‑testing start‑up 23andMe in an exasperated cease‑and‑desist letter that prompted a fast and contrite response from the company...”. 23andMe which by then had provided Personal Genome Service to almost half a million people was instructed by FDA to stop marketing its Saliva Collection Kit and Personal
Genome Service until such time as it receives FDA marketing authorization. 23andMe now returns only information on ancestry and raw data of the gene variants identified without describing their health implications. Major professional bodies like American College of Medical Genetics[3] and American Society for Human Genetics[4] have not changed their cautionary stand for DTC genetic testing. It is not uncommon for members of the public, families with hereditary conditions, consumer right activists, ethicists, medical professionals, and scientists to take contrarian views on DTC marketing of genetic testing. DTC genetic testing is as much a reality as the realization that regulators and medical profession cannot in the long run prevent people to learn more about their genetic makeup for various reasons. However, keeping in mind the interest of public and patients, doctors and regulators cannot let DTC‑GT commercial enterprises a free run in the name of revolutionizing genomic health. Based on my experiences of caring for and counseling a large number of hereditary cancer families, I feel tighter regulations and constant monitoring of DTC genetic testing is as necessary as for any other medical test or intervention that is allowed over the counter sale or public promotion. The line of argument on both sides is very standard. I must also admit that quite often when I share my views on DTC promotion of genetic testing in academic or public forums, I am surprised by vociferous counterarguments from people whom I would have imagined to be on my side of the argument. Perhaps the field is now like an evolving cult with people from all quarters joining and leaving it all the time. The two major sticking points in the argument over DTC are the autonomy of the person purchasing genetic testing services and the role of healthcare professionals in ensuring maximum benefit and minimum harm to the public with medical tests and procedures.
Rajiv Sarin Department of Radiation Oncology, Tata Memorial Hospital, Parel, Mumbai, Maharashtra, India For correspondence: Dr. Rajiv Sarin, Department of Radiation Oncology, Tata Memorial Hospital, Parel, Mumbai - 400 012, Maharashtra, India. E-mail: rsarin@actrec. gov.in
Access this article online Website: www.cancerjournal.net DOI: 10.4103/0973-1482.155088 PMID: *** Quick Response Code:
The argument of autonomy runs both ways. Autonomy would be affected if the government or professional bodies enforce regulations which prevent a person to know through the DTC route;
Journal of Cancer Research and Therapeutics - January-March 2015 - Volume 11 - Issue 1
1
Sarin: DTC
what is their genetic makeup, which in some cases may lead to knowing their health risks and accompanying lifestyle change or medical interventions. From another perspective, autonomy of this person would also be affected if DTC genetic testing guides them to make a major life or health choice decision based on information which is incomplete, misleading, or too complex to be understood without medical consultation and genetic counseling. If one argues against a free license to DTC commercial genetics lab marketing their gene tests to public, will they support similar free license to positron emission tomography‑computed tomography (PET‑CT) centers marketing their scans to the public at large. If one argues why should someone else decide if a person wants to know their genetic makeup irrespective of its medical relevance; can they also argue if a healthy person wants to have yearly PET‑CT to know what is going on in their body? Is genetic analysis not a medical test? If autonomy of the individual has to be balanced against medical relevance for yearly PET‑CT for public; why not for genetic analysis? Like any other medical investigation, one needs to know the clinical utility and scientific validity of genetic tests in various contexts.[5] Most DTC genetic analysis platforms will miss many disease causing gene variants in diseases where accurate genetic analysis is most relevant—the Mendelian disorders. For the SNPs that are easily detected and reported in DTC‑GT reports, the risk association with a particular disease is small and generally influences by environment and ethnic background. The clinical utility of genomic analysis should not be shown with anecdotal cases but with valid data on how it can improve clinical outcome in a cohort of individuals with certain characteristics like age, gender, or disease condition. All health‑related information whether they are blood tests, radiological examinations, or psychometric evaluation; has to be critically evaluated in a particular context. Out of context they may be misleading and lead to erroneous conclusions and result in wrong advice and treatment. Why only some drugs and devices are allowed to be sold to the public without prescription, over‑the‑counter in medical or general stores. Does it not limit autonomy of the public who are intelligent enough to find it out for themselves through their friends and internet? The complexities involved in ordering,
2
interpreting, and acting upon genetic tests may be as complex as many other medical tests, devices, and drugs. With gene sequencing technology becoming much faster and inexpensive and the internet pervading all aspects of our lives; it would be foolish to think that in years to come, regulation can stop people from knowing their genetic makeup if they wish to. When this becomes widespread, the medical practice will go through a major turmoil dealing with so many ‘worried well’ persons seeking their professional advice to understand what their DTC gene tests mean and what should be done. Till we reach the stage of cascading confusion, healthcare professionals including genetic counselors, clinical geneticists, and disease specialists such as oncologists will continue to guide people if they have a distinct probability of harboring a medically relevant genetic variant and how to act upon finding a variant. We want the technology to grow in leaps and bounds, but it should not promise what it cannot do. The Nature editorial concludes that, “It seems, then, that 23andMe’s experience with the FDA is less about the growing pains of a new industry than about affirming a principle—the need for truth in advertising—that is as old as business itself”.[1] REFERENCES 1. The FDA and me. Nature 2013;504:7‑8. 2. Yim SH, Chung YJ. Reflections on the US FDA’s Warning on Direct‑to‑Consumer Genetic Testing. Genomics Inform 2014;12:151‑5. 3. A m e r i c a n C o l l e g e o f M e d i c a l G e n e t i c s S t a t e m e n t o n Direct‑to‑Consumer Genetic Testing. Available from: https://www. acmg.net/ [Last accessed on 2015 Mar 26]. 4. Hudson K, Javitt G, Burke W, Byers P. American Society of Human Genetics Social Issues Committee. ASHG Statement* on direct‑to‑consumer genetic testing in the united states. Obstet Gynecol 2007;110:1392‑5. 5. Wade CH, Wilfond BS. Ethical and clinical practice considerations for genetic counselors related to direct‑to‑consumer marketing of genetic tests. Am J Med Genet C Semin Med Genet 2006;142C: 284‑92.
Cite this article as: Sarin R. Ethics and clinical utility of direct-toconsumer genetic tests. J Can Res Ther 2015;11:1-2. Source of Support: Nil, Conflict of Interest: None declared.
Journal of Cancer Research and Therapeutics - January-March 2015 - Volume 11 - Issue 1
Copyright of Journal of Cancer Research & Therapeutics is the property of Medknow Publications & Media Pvt. Ltd. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use.
