Earlier this month employees at most of 7500 Walgreens pharmacies geared up to stock a new item on their shelves: a saliva sampler for personal genetic testing. On May 11, officials at Pathway Genomics, a San Diego-based biotech firm, announced they’d sell over-the-counter spit kits for around $25 through an arrangement with the retailer. A curious consumer could follow the simple package instructions and send their stuff in a plastic tube, provided in a handy box with pre-paid postage, for DNA analysis.
Once the sample’s in the lab, the cost of genomics testing depends on what, and how much, you want to know. Pathway offers a variety of options. A pre-pregnancy planning report would check to see if you carry mutations for each of 37 inherited diseases – conditions as varied as beta thalassemia, cystic fibrosis and familial Mediterranean fever – for $179. A profile of tests for genes involved in metabolizing specific drugs, such as Plavix and Coumadin, goes for $79. A vaguer, health conditions panel suggests a propensity to develop particular diseases including Type II diabetes and melanoma. This series runs $179 if purchased separately, but might be had for less through a discounted package rate. A genetics ancestry evaluation lists for $249.
Within two days, after some controversy and a receipt of a letter from the FDA Office of In Vitro Diagnostic Device Evaluation and Safety addressed to James Plante, Founder and CEO of Pathway (dated May 10), Walgreens nixed the plan. Now, Congress wants to know more about direct-to-consumer personal genomics testing. On May 19, the House Committee on Energy and Commerce sent letters to Plante and the CEOs of two major competitors – Navigenics and 23andMe. House Committee Chairman Henry Waxman and colleagues have some questions about how samples are processed and the accuracy of the results:
“The Committee is requesting information from the companies on several aspects of the tests: How the companies analyze test results to determine consumers’ risk for any conditions, diseases, drug responses, and adverse reactions; the ability of the companies’ genetic testing products to accurately identify any genetic risks; and the companies’ policies for the collection, storage, and processing of individual genetic samples collected from consumers.
The Federal Trade Commission has cautioned consumers about genetic testing kits since 2006. Still, personal genomics tests are readily through available on-line sales. You can get the 23andMe “DNA Test for Health and Ancestry Information” from the manufacturer or at Amazon.com for $499. Navigenics takes a distinct approach by marketing its genetic tests strictly as a laboratory service for medical practitioners and so, thus far, avoids some rules regarding in vitro diagnostic tools.
New York State, my home, is one region where Walgreens wouldn’t have sold the kits in stores. That’s because of stricter state laws regarding genetic testing.
At present, whether a genetic test is subject to FDA regulation largely depends on how it is developed and marketed. The literature, as well as current FDA regulatory policy, divides genetic tests into two primary categories:
(i) in vitro diagnostic test kits (also sometimes referred to as IVD kits or, simply, as genetic test kits), which may be sold by their manufacturers directly to consumers, testing laboratories, clinicians or other approved recipients, depending on the device; and
(ii) laboratory developed tests (or LDTs, also sometimes referred to as “home brew” assays), which are not sold directly to the general public or to physicians; rather, a testing service (as opposed to the actual test itself) is marketed, and samples (e.g., of saliva) are collected and submitted to the laboratory for evaluation.
The FDA regulates IVD kits as medical devices…
Up until now personal genomics testing companies have had few constraints, and little profit. What’s clear from the recent news is that we’ll be hearing more about these kits – their manufacture, distribution, accuracy and interpreting results. And that doctors, for our part, have some serious studying to do. Whether the test results go directly to patients, or not, they’re sure to raise many legitimate questions. We’ll need some solid answers about the testing process in itself, besides meaningful responses about what’s found in our DNA.