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Don't "Protect" Us From Our Own Genetic Information

Unfortunately, there is a tendency towards a paternalistic attitude by certain groups in the medical professions who seek to limit access to medical information that is not directly under their control.
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I'm a long time advocate of genetic genealogy (full disclosure: I co-authored Trace Your Roots with DNA with Dr. Ann Turner), so the FDA's public meeting regarding Oversight of Laboratory Developed Tests (LDTs) was of interest to me. As one of the roughly million customers who has purchased direct-to-consumer (DTC) DNA tests over the past decade, I'm keen to make sure I can continue to do so without undue interference or cost.

Normally, I would expound upon my reasons, but one of the speakers today articulated the perspective of genetic genealogists (and other DTC test consumers) so well that I asked whether I could share her remarks here, and she kindly agreed. Katherine Borges is the Director of ISOGG, the International Society of Genetic Genealogy, a non-profit organization of over 7,000 members spread throughout the U.S. and 60 other countries. What follows are her comments from today. Both she and I welcome yours.

"Our (ISOGG's) mission is to promote and educate members and the general public about the use of DNA testing for genealogical and ancestry purposes. We are comprised of serious enthusiasts who represent an active core of the estimated one million people who have taken DTC tests for genealogy and ancestry purposes since their inception about ten years ago.

As the name of our society implies, our focus is primarily upon using DTC tests for genealogy, but a growing segment of our membership also use personal genome tests to trace health-related information within their families. However, testing for ancestry and anthropology is far and away the largest segment of the DTC genetic testing market. This clearly does not fall under FDA's area of responsibility. Our concern is that FDA should not attempt to expand its regulatory authority beyond its proper domain of medical applications, and it should assure that its actions in the medical area do not inadvertently impact the non-medical applications.

ISOGG is a dues-free society with no funding sources. The organization has no direct financial stake in any proposed regulation, and is not affiliated with or financially supported by the companies offering these tests. However, our members understand that they would bear the impact and resultant costs of any regulatory matrix imposed upon testing companies, first as taxpayers, and secondarily as consumers of the services they offer.

Our membership is not opposed to regulation that works to protect or help consumers where a clear need for legislation is evident and an agreed-upon national purpose is fulfilled. In 2008, we supported GINA, and many of our members wrote to their legislators to urge them to pass this important bill.

Additionally in 2008, ISOGG encouraged and facilitated the development of Y-chromosome nomenclature standards for Short Tandem Repeats or STRs by the National Institutes of Standards and Technology, and their subsequent adoption by the ancestral DNA companies and labs. These standards were published in the Fall edition of the free-access online Journal of Genetic Genealogy. This initiative for voluntary standards by a private organization is similar to the implementation of voluntary standards such as those of UL and NEMA in the electrical industry, and ANSI standards in many others.

The great majority of our ISOGG membership feels strongly that any expansion of FDA regulatory authority that would have the effect of preventing consumers from ordering DTC tests would be unwise and unnecessary. At a minimum, no action of that sort should be taken without credible, compelling scientific data to support such a move. Relevant studies of this nature and quality are currently being conducted.

In making these statements I have in mind the role of the media and certain written academic opinions that over the past few years have sought to impact this issue. Sensationalistic media articles that relate anecdotal cases should not be used as a basis to regulate. Many of the articles I've read have been biased, reflecting the author's views without presenting voices from both sides of the issue. For example, just last week, a DC area reporter was looking for stories from consumers of DTC testing for an article to be published in anticipation of this meeting. He was contacted by several individuals who had positive testing experiences, but he did not follow up on these contacts. He told another consumer that he was specifically seeking negative experiences.

Even more seriously, we see a tendency towards a paternalistic attitude by certain groups in the medical professions who seek to limit access to medical information that is not directly under their control. Their arguments often express an extremely low opinion of the ability of people outside of their own professions to comprehend any genetic information or come to terms with its implications. Yet, we heard Col. Magill of Walter Reed state here yesterday that sometimes he sees a patient who knows more about a medical issue than he does, just from personal research. A mandated intermediary would impose yet another cost to consumers.

Additionally, over-regulation can even negatively impact participation in scientific studies. My own mother signed up to participate in Kaiser Permanente's genome study, but then backed out for the very reason that the results will not be returned to her. A barrier to access to one's own genetic information also seems contrary to the intent of HIPAA law, and to the new rules issued last week by the White House requiring health insurance companies to provide free coverage for screenings, laboratory tests and other preventative care.

The general view of ISOGG's members is that regulatory agencies should not stand between a consumer who wishes to collect data on their own genome, and labs that can provide that service. The genome of an individual consists fundamentally of information, and every individual in a free society has an absolute right to information about their own genome from a source of their choosing.

Our membership base consists of many MDs, PhDs, and other specialists who are willing to volunteer their time to assist with the development of industry standards, good practices, and advisory panels. These concepts could be developed in collaboration with federal agencies like NIST and the FTC. And FDA's regulatory requirements for DTCs could be met with something as simple as full and adequate disclosures of the limitations of the tests by the testing companies.

The result could be a happy medium to the benefit of consumers, the laboratories, the testing companies, the government and to taxpayers."

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