In November 2013, the FDA ordered a medical testing upstart named 23andMe to halt selling its $99 genetic testing service to consumers until it could prove the tests were reliable. By February 2015, 23andMe was vindicated and able to sell at least some testing. The FDA announced that it will allow patients to get partial results from their genome, starting with testing for Bloom Syndrome, a rare genetic disease. The FDA plans to further loosen its restrictions on “autosomal recessive carrier screening tests” so patients can obtain tests covering up to 200 single gene diseases. Examples of single gene diseases include familiar names such as cystic fibrosis, sickle cell anemia, Marfan syndrome, and Huntington’s disease. While there are at least 6,000 single-gene diseases, many of them afflict small numbers of patients.
Patients seek genetic testing to explain current symptoms, to report on possible future maladies, or to highlight gene problems they may pass to their children. 23andMe initially provided patients with probabilities of having some genetic-linked diseases such as breast cancers. Those probability reports alarmed the FDA which is rightly concerned with how patients interpret the results of genetic testing.
The National Institutes of Health and other partners are pursuing a precision medicine initiative expected to deliver prevention and treatment strategies taking individual patient variability into account. Precision medicine will focus on cancers initially and other diseases later. The precision medicine initiative will benefit from the DNA Map of one-million Americans, a project already underway. A database of that scale will be helpful in identifying patterns in genetics, environmental factors, and symptoms. The DNA maps of more than 250,000 people have been collected at Veterans Affairs and Geisinger Health System. With appropriate privacy protections they can be used to forward the precision medicine initiative.
Affordable DNA testing will motivate consumers to seek more medical care – advice and perhaps prophylactic procedures. Knowledge of personal genetic issues should help consumers tackle upcoming diseases early and that might avoid spending on inappropriate treatment. Early treatment may also allow patients to remain employed longer – offsetting societal costs. On the other hand, a DNA map could encourage hypochondria and the wasted spending that entails.
The precision medicine initiative, especially when it tackles diseases beyond cancers, is where the bigger costs are expected. The National Library of Medicine estimates that today drug development costs range between $161 million and $1.8 billion. It could take investments in hundreds or thousands of drugs to tackle the 6,000 genetic disorders. At $1.8 billion times 6,000, the tab would be near $11 trillion. With luck we should discover some drugs that tackle more than one genetic disease. The vast databases coming online and synergies in development techniques may also reduce costs. It would be helpful to partner in these developments with other advanced economies. What we cannot afford is 6,000 drugs that are priced in the Sovaldi range ($80,000 per patient).
Insurers and programs such as Medicaid and Medicare need to develop sane policies on paying for high priced drugs – the entire economy cannot be sacrificed on the altar of free health care. The economic stresses of treating genetic diseases will push discussions about rationing of treatment into the public forum.
Alan Daley is a retired businessman who writes for The American Consumer Institute Center for Citizen Research