The California state government issued 'cease-and-desist' letters two weeks ago to 13 'direct-to-consumer' genetic-testing companies demanding they immediately stop selling genetic tests to California residents and provided them until last Tuesday, 23 June, to prove to authorities that they had complied with state and federal regulations or present an implementation plan that their laboratories are properly licensed and certified and that all tests are requested by physicians. 'We [are] no longer tolerating direct-to-consumer genetic testing in California,' announced Karen Nickel, Chief of the Laboratory Field Services division of California's Public Health Department and signatory of the letters.
As technology advances, it is thought that likely price-drops for testing services will open up a lucrative market boom. Physician-requested tests threaten the commercial viability of this burgeoning young market, signalling a policy departure from California's courting of the biotechnology sector in response to considerable public outcry regarding the consumer dangers of an unregulated market.
The names and copies of each letter threatening 'civil and criminal sanctions' - including daily fines per breach from £1,500 potentially up to £5,000 - were released on Tuesday. The state department is currently reviewing the company responses. Much confusion and disagreement exists between the industry and health regulators as to what constitutes compliance. At the heart of the clash is whether DNA analysis equates with practicing diagnostic medicine and the freedom an individual should have to access their own DNA data without restriction.
Last week, the American Medical Association (AMA), the largest physician group in the US, approved new direct-to-consumer genetic testing policies at its annual meeting - these support California's stance. Among the recommendations, the AMA endorsed only genetic testing conducted under the supervision of a qualified healthcare professional.
The AMA estimates that over 1,400 genetic tests are available to consumers without prescription or medical assistance. Currently there are no specific direct-to-consumer testing regulations or quality-controls - escaping the remit of U.S. Food and Drug Administration scrutiny - exposing consumers to potential dangers from inaccurate and medically irrelevant testing. In absence of federal regulations, California has joined New York health department's state-initiative, which has issued over 26 similar letters since November, to protect consumers. Healthcare professionals are concerned that bogus tests may cause harm through needless worry or false reassurance.
Nickel stated that DNA-testing belongs under the same regulatory framework as a 'lab test' or 'examination'. 'We think if you're telling people you have an increased risk of adverse health effects, that's medical advice,' said Ann Willey, director of laboratory policy and planning at the New York Department of Health. Each letter identically invoked seven statutes and accused the companies of breaching two Business and Professional Code sections - (section 1241) laboratory licensing and (section 1288) the qualified physician-ordered testing requirement unless exempt like pregnancy tests. 'Genetic tests are NOT exempt,' the letter stresses.
Genomic companies welcome good-practice standards but object to physician involvement preventing a direct-consumer market. They contend that DNA-analysis is not medical testing but personal genetic 'informational services' and should be regulated like over-the-counter tests.
A spokeswoman for 23andMe, whose CEO is Anne Wojciki, wife of Google billionaire Sergey Brin, stated that the company is eager to work with authorities to develop appropriate regulation for this 'entirely new informational service' about people's genetic makeup. Navigenics CEO Mari Baker suggests the health department 'should understand the difference between a genetic risk assessment and a diagnostic test'. Navigenics - charging £2500 - screens DNA from saliva samples for almost two million known genetic variations linked to potential health risks. A licensed physician approves all tests and customers are encouraged to consult their team of genetic counsellors. It remains unclear whether company-employed physicians satisfy the doctor oversight requirement.
Kari Stefansson, who runs Iceland-based decode genetics, questions the legality of California creating a physician 'barrier' between individuals and their genetic data. He argues that genetic tests are not medical interventions like prescriptions. 'It measures your risk. It's a description of who you are.' Nickel conceded there is a 'need to clarify diagnostic versus predictive reports.'
Texas-based DNATraits also provides genetic counselling. Founding partner, Bennett Greenspan, questions the prudence of physician involvement: 'If you go ask a random 100 doctors to talk about genetic disease a huge number of them will say they don't know much about that. Genetic counsellors - that's what they do for a living.'
Ryan Phelan, CEO of DNA Direct (which did not receive a letter), criticises the blanket policy approach: 'All genetic tests should not be considered the same.' He foresees a growing need for 'nuanced regulation' that distinguishes between tests predicting serious diseases and those revealing interesting, fun information unrelated to health.
Some oppose government interference with learning personal data. 'It's your DNA. You've got the right to know,' contends Greenspan. 'We think your genetic information is a fundamental part of you,' said Wojcicki.There is overwhelming pressure for uniform federal regulation. The regulatory regime California applies to personal genetic information services may influence an upcoming two-day federal hearing investigating this issue in Washington next month and could serve as a global paradigm for regulators.