Guidelines From Professional Human Genetics Societies and 23andMe Policies

by Uta Francke, M.D.

The European Society of Human Genetics (ESHG) has issued a policy statement on direct-to-consumer (DTC) genetic testing for health-related purposes. Published in the Society’s journal, the European Journal of Human Genetics, the statement addresses a multitude of issues and proposes regulations. Given that 23andMe Services are available to citizens of most European countries, I was interested to check out how current 23andMe policies and practices measure up to the recommendations of the ESHG statement. I am a human geneticist, born in Germany, but not a member of the ESHG. I am a professor of Genetics and Pediatrics at Stanford University, and have served as a consultant to 23andMe for three years. In this statement, the ESHG agrees that individuals have a right to access their own genetic information, and for many, but not all, recommendations 23andMe appears to be in full compliance.

DTC advertising of genetic testing should be “accurate and transparent, not misleading, not overstating, and include information about limitations, risks and benefits of the tests”.

All 23andMe advertising that I have seen conforms to these guidelines. In the document “Terms of Service” (TOS) that 23andMe customers sign, the risks and considerations regarding the services are clearly spelled out. Before signing up for the services customers are urged to consider that genetic information is irrevocable, that customers may obtain information that is unexpected and may evoke strong emotional responses or may have social, legal or economic implications.

A medical professional should be involved before the test is taken to ensure there is sufficient information about the purpose and appropriateness of testing, its possibilities and limitations as well as the clinical significance, and to ensure that the individual understands these limitations.

23andMe has written statements extensively addressing these issues but does not provide individual pre-test counseling. If they wish, customers could consult with independent genetic counselors before getting their data, or before signing up.

For post-test counseling, an appropriately trained person needs to help the individual understand the medical facts of the disorder and relevance of the test results.

Interestingly, ESHG recommends that this healthcare professional be independent of the testing company: ”A conflict of interest may arise when the healthcare professionals involved in the counseling are employed by or linked to the companies selling the tests. In this case impartial health advice might be compromised.” This recommendation is in agreement with 23andMe’s practice of advising customers not to change their health behaviors based on the genetic information alone but to discuss it with a physician or other health provider. Also in agreement with the ESHG policy statement, 23andMe does not employ genetic counselors. Instead, genetic counseling is offered for those clients who desire it by referring them to an independent group of genetic counselors (Informed Medical Decisions) trained specifically in 23andMe’s services.

In the United States, various professional organizations and government agencies are debating regulation of the genetic testing industry. As Statements, Perspectives and Opinion pieces are published in medical and scientific journals, readers should consider the biases and affiliations of the authors that might reveal potential conflicts of interest. For example, organizations like ESHG, the American Society of Human Genetics (ASHG), and the American College of Medical Genetics (ACMG) were created to represent the interests of their professional membership, similar to the American Medical Associations (AMA) for physicians. Any claims to act in the public interest by protecting people from potentially damaging genetic information may reflect a fear of the new consumer-driven healthcare system that, as in the case of DTC genetic testing, may circumvent the professional establishment. Insisting on individual professional counseling in the pre-testing and post-testing phase can be interpreted as an attempt to ensure continued involvement of board-certified genetics professionals.  In this context, I reveal that I am an American Board of Medical Genetics certified clinical and molecular geneticist and a member of the ASHG and the ACMG.

ESHG states that individual medical supervision falls into the realm of primary care providers and calls for genetics training of these providers and improved genetic education of the public.

As readers of this blog are well aware, the 23andMe website offers many tools for genetic education to the public free of charge. In addition, I hope that 23andMe will extend efforts to educate the primary health care community.

ESHG stresses the importance of ensuring the high quality of genetic testing services. This includes requiring that well-trained and appropriately certified personnel do tests in accredited laboratories, and that clinical validity and clinical utility have been established for tests offered.

23andMe meets the first requirement by using a CLIA certified laboratory (National Genetics Institute) to perform the tests. Thus, there is little doubt about the analytical validity of the genotyping, i.e., results reported are greater than 99% accurate. 23andMe critically evaluates the literature and only reports results of tests with clinical validity, meaning that the reported associations between SNP and disease exceed statistical significance cut-off and have been replicated by independent studies.

While proof of clinical utility is a worthwhile goal for genetic tests, the rapid rate of new discoveries in genetic marker-disease associations outpaces the ability of the medical research community to provide evidence for beneficial clinical outcomes of these tests in a timely fashion. While insisting that clinical utility be an essential criterion for deciding to offer a test directly to the public, the ESHG has taken the position that “tests for which the clinical utility is unproven but seems likely should be performed in the context of the healthcare system and be subject to adequate post-marketing surveillance.”  In my opinion, allowing research to go forward is a wise decision; insisting on experimental evidence of clinical utility for each test would grind progress to a halt.

The ESHG expresses concern about the adequacy of consent processes for companies that perform research on the biological samples and information obtained from their customers.

Alleviating such concerns, 23andMe has created a separate community of customers willing to participate in research, 23andWe. This research project is IRB-approved and uses a separate consent form stating clearly the conditions for participating, and options to participants, on issues such as risks, benefits, privacy, commercialization and property rights. In addition, 23andMe is transparent about its use of customer data outside of peer-reviewed research, such as for product improvement. It seems to me that in its research activities, 23andMe is in full compliance with the ESHG recommendations.

The ESHG, as are other professional organizations, is strongly opposed to genetic testing of minors unless the test result will be relevant to clinical diagnosis or management of the child.

In contrast, 23andMe leaves the decision to the parents who can submit samples from children less than 18 years old and who control access to their children’s genotyping data. Parents may decide to share some or all of the information with their children. Once they reach the age of 18 years, young customers have the choice to withdraw from participating and have their account closed. I can imagine that teenagers learning about genetics in high school and at university will benefit from the opportunity to examine their own data on genetic traits; it will make learning more fun and relevant.

The ESHG statement refers to other European Union documents that advocate for government action to protect citizens from harm.

When contemplating whether genetic information may be dangerous to individuals, one needs to consider access to all medical information. After many years of fighting for this right, patients now have access to their medical records within the established healthcare system. In a system with complete electronic medical records like the one I belong to (Palo Alto Medical Foundation), my doctor orders laboratory tests and I receive e-mail notification as soon as test results are available. I can then access the new test results directly. The website displays the statement “If you have questions or concerns regarding your test results, contact the provider who ordered the test.” Thus, in contrast to the professional organizations that insist on direct involvement of medical genetics specialists in the post-testing phase, in my healthcare system it is not mandatory that a physician be inserted between the test results and the patient. I am able to directly access any and all test results, including my APOE genotype, and I like it this way.

As governmental agencies and professional society committees in this country are drafting regulations and guidelines, I hope they will view the activities of DTC genetic testing companies in the larger framework of consumer-driven changes in the health care delivery systems.

Uta Francke is a professor of genetics and pediatrics at Stanford University. Her research has ranged from human and mouse chromosome identification and gene mapping to the discovery of genes involved in heritable disorders, studies of their functions and of disease-causing mechanisms. She is also a consulting member of 23andMe’s Editorial Advisory Board.