People deserve access to their personal genetic data


Regulators are right to demand proper standards from over-the-counter genetic testing, but they also need to treat us like adults, writes Laurie Zoloth.


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At the remarkable dawn of the age of personalised genomics, both private and public researchers were racing to home in on the snippets of DNA that make one person different from another. One of the first companies to market a saliva test kit was a small start-up, 23andMe. Their $99 test would let you “discover how your 23 chromosomes made you, you” as their early advertising material crooned, vaguely reminiscent of the movie Gattaca. The genetic profile didn’t consist of your whole six billion-letter genome. It consisted of a million or so unique DNA bits known as SNPs (single nucleotide polymorphisms). Unlike 99.5% of human DNA, these snippets vary from person to person and can be used to trace ancestry and disease risk.

But on 22 November last year, the US Food and Drug Administration shut down 23andMe. Now, you might ask, why?

The trouble for 23andMe began when they started advertising – spending $5 million last year alone on TV, YouTube and the internet – that their SNP test could be used to predict things such as the risk of breast cancer or Parkinson’s disease. To the FDA, those claims raised two concerns.

First was that the labs and the processes that 23andMe used had not yet met FDA standards. A false positive in a test for the BRCA1 breast cancer gene “could lead a patient to undergo prophylactic surgery” unnecessarily, wrote the FDA in a strongly worded letter to the company.

Second, the FDA - and the many, many critics of direct to consumer (DTC) genetic testing - argues that genetic knowledge is tricky, complex and potentially catastrophic, and therefore cannot be entrusted directly to a patient. The news that you are a carrier of a devastating genetic disease or at risk of a fatal neurodegenerative decline, for example, should only be relayed by a highly trained (and paid) professional who can break the news carefully and fully explain the concept of “genetic risk”.

Why shouldn’t you have access to your personal genetic information in order to make smart and thoughtful decisions about your own health?

There are clear risks of throwing the entire process of genomic testing entirely to an unregulated marketplace. Recall the salutary tales from the early days of vaccine production. Every snake oil salesman claimed to have tetanus “anti-toxin” and it was only after several children died of tainted “vaccines”, and the creation of the FDA, that the market was made safe. Yet 23andMe’s scientific advisory board and research staff is replete with highly regarded geneticists and Stanford University information scientists. It is hard to imagine that they were involved in a shoddy operation, and it’s surprising that the company did not work swiftly to prove themselves.

But let’s take a look at the second part of the FDA’s argument. Why shouldn’t you have access to your personal genetic information in order to make smart and thoughtful decisions about your own health?

The argument that a trained professional has to be involved could be seen as paternalistic and frankly is out of sync with other developments in consumer health. Walk into any drugstore in the US and you can buy over-the-counter tests for many things that used to be available only in a doctor’s office: drug tests, pregnancy tests, tests for vaginal diseases, cholesterol or blood sugar level and paternity, all guaranteed “99.5%” accurate by the FDA. The genetic cat, as it were, is already out of the bag.

Second, the world of the doctor-patient encounter is no longer closed or silent. Ask anyone with a computer what they did after receiving a diagnosis from a medical expert and they will tell you they went direct to Google for a second opinion, sourcing advice from medical journals, from the Mayo Clinic and the NIH itself. Rather than leading patients away from the helping hand of doctors, champions of DTC testing argue these tests are the very thing that leads people to seek medical advice for a brewing disease long before clinical symptoms appear.

Third, why is the medical framing the only authorised interpretation? Genetic risk is also a family matter and in many cases a moment for intense religious or philosophic reflection.

And finally, the objections assume that human beings are not equipped to deal with risk, uncertainty and even catastrophic news. The FDA worries about Americans, pitiable and dumb, easily confused, easily made hysterical by the truth, but this is not an accurate clinical picture.

So should the FDA shut down 23andMe? Yes, absolutely: to get the inspection, paperwork and approvals they have been asking for during four years of frustrated negotiation, and to set regulatory standards for a new medical industry. There are clear principles in bioethics about non-maleficence and beneficence at stake here. The FDA has a right to demand that DTC companies do their duty. But when these companies do comply? Then DTC genetics companies surely may put the science directly into the right hands — the hands of the people who carry the genes at stake, for this engages other principles of bioethics, autonomy and justice.

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Laurie Zoloth is a professor of medical ethics and humanities at Northwestern University, Chicago.
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