Genetics, Population-Based Risk Studies & Public Access

Years ago, while performing 5-minute employment-related physical exams for a nursing home's employees, I violated the guidelines published in an insurance company's sponsored meta-analysis of the value of various physical examination steps. My mistake in examining the 35 mostly female workers was that I actually performed brief physical exams which uncovered a thyroid cancer in a 16 year-old (subsequently cured by surgery), an abdominal mass in a 16 year (a large teratoma subsequently successfully removed) and a cancerous breast lump in a 40-ish administrator.

According to the meta-analysis, I wasted my time checking the thyroid, abdomen, breast and other organs in these apparently healthy, uncomplaining, low-risk women.

Population based risk studies cannot predict the particular person who will have a thyroid cancer, teratoma or breast cancer. They predict that a certain percentage of the population will or will not get sick, not the names of those individuals. Risk-analysis studies should never be relied upon by a payer, physician or other provider as conclusively determining what needs to be done for each patient.

The 5 minutes I spent for each of the women described above yielded cures of serious diseases and saved the nursing home and its health insurers significant sums as patients were cured in an asymptomatic early stage of their diseases.

For the last 3 days, at my own expense, I have been in Houston, attending a genetic genealogy symposium held by Family Tree DNA (I have no financial interest in Family Tree DNA). Among the technical subjects, there was significant discussion of steps taken by various state governments, under the urging of "doyens of proper practice", against 2 companies which market "Direct to Consumer" genetic testing and provide information about population-based risks. Some of the experts have even leveled their artillery at genetic genealogy (which in my case, has restored a broken link to a family I would never have otherwise found).

Genetic genealogy is no threat to consumers. Participation is voluntary. If one does submit a specimen for analysis and is disappointed with the results (i.e., finding out that he is not related to Gates or Buffett, but might have several horse thieves in her family), it's not likely that the person will be at significant physical, mental or financial risk. Genetic genealogy links traditional genealogy research techniques to inferences about ancestral genetics. An enormous anthropological study, using similar techniques, is sponsored by The National Geographic Society and has been well supported by the American public. Rather than throw-up roadblocks to progress, government should provide standards which each laboratory performing genetic tests should meet and supervision by qualified inspectors to be certain that standards are met.

At the meeting, I heard reports of criticism of companies performing "screening" genetic tests to assess population-based risk of disease. Several of these companies employ genetic counselors (disclaimer: a member of my family works for one of the companies, but has not had any input into this blog) to provide sophisticated information to their clients. And at least one provides training for physicians interested in this area so they can develop expertise and provide medical advice and care to their patients.

The opposition to allowing individuals to spend their money to learn about population-based risk is puzzling. Dismissive statements such as "instead of spending money on genetic tests, they should stop smoking, reduce their alcohol intake, exercise and eat more vegetables" reflect arrogance. Political involvement in this issue may be more focused on raising political contributions, than in contributing to the knowledge, health and life enjoyment of Americans. Americans should have an unfettered right to purchase information and knowledge which may stimulate them to make changes in their lives affecting their health. And they should have the right to take their information to the physician of their choice to seek consultation and advice.

Since the Middle Ages, science and truth and knowledge dissemination have driven societal development and progress. When government prohibits access to information and advances in information technology, it is doing the nation no service. Let's stop the paternalistic nonsense of "our government will tell you what's good for you and what you need to know." If individuals want access to genetic risk-based information, they should be able to have it.

In these days of evidence-based medicine, rather than accept the criticism of the doyens, a study should determine whether the availability and understanding of genetic information about population risks changes people's behavior, reduces their risks and reduces the nation's cost of health care. Based on my participation as a fellow of the Health Research Council of the City of New York in the early 1960s (which is when dietary saturated fat intake dropped dramatically for the first time), I predict it will.