Merely three months back, Francis Collins was telling everyone how his
organization could have developed Ebola vaccine day before yesterday, if
Congress gave him little more money. That claim was derided by many including
Mike Eisen in his blog who
suggested that Collins invest in basic research instead of chasing the latest
trend. Now all that is forgotten. Today, in yet another article published in
medical literature, Francis Collins declared where any new money will be going
personalized precision medicine).
The last paragraph sums it all -
This initiative will also require new resources; these should not compete with support of existing programs, especially in a difficult fiscal climate. With sufficient resources and a strong, sustained commitment of time, energy, and ingenuity from the scientific, medical, and patient communities, the full potential of precision medicine can ultimately be realized to give everyone the best chance at good health.
Readers should note that Collins had been promising the moon and asking for more money for a long time. Here is an article he published in JAMA in 1999 telling you what 2010 would look like, if you gave him more money. None of these promises ever came true.
A HYPOTHETICAL CASE IN 2010
General visions of gene-based medicine in the future are useful, but many health care providers are probably still puzzled by how it will affect the daily practice of medicine in a primary care setting. A hypothetical clinical encounter in 2010 is described here.
John, a 23-year-old college graduate, is referred to his physician because a serum cholesterol level of 255 mg per deciliter was detected in the course of a medical examination required for employment. He is in good health but has smoked one pack of cigarettes per day for six years. Aided by an interactive computer program that takes Johns family history, his physician notes that there is a strong paternal history of myocardial infarction and that Johns father died at the age of 48 years.
To obtain more precise information about his risks of contracting coronary artery disease and other illnesses in the future, John agrees to consider a battery of genetic tests that are available in 2010. After working through an interactive computer program that explains the benefits and risks of such tests, John agrees (and signs informed consent) to undergo 15 genetic tests that provide risk information for illnesses for which preventive strategies are available. He decides against an additional 10 tests involving disorders for which no clinically validated preventive interventions are yet available.
A cheek-swab DNA specimen is sent off for testing, and the results are returned in one week (Table 1). Johns subsequent counseling session with the physician and a genetic nurse specialist focuses on the conditions for which his risk differs substantially (by a factor of more than two) from that of the general population. Like most patients, John is interested in both his relative risk and his absolute risk.
John is pleased to learn that genetic testing does not always give bad news his risks of contracting prostate cancer and Alzheimers disease are reduced, because he carries low-risk variants of the several genes known in 2010 to contribute to these illnesses. But John is sobered by the evidence of his increased risks of contracting coronary artery disease, colon cancer, and lung cancer. Confronted with the reality of his own genetic data, he arrives at that crucial teachable moment when a lifelong change in health-related behavior, focused on reducing specific risks, is possible. And there is much to offer. By 2010, the field of pharmacogenomics has blossomed, and a prophylactic drug regimen based on the knowledge of Johns personal genetic data can be precisely prescribed to reduce his cholesterol level and the risk of coronary artery disease to normal levels. His risk of colon cancer can be addressed by beginning a program of annual colonoscopy at the age of 45, which in his situation is a very cost-effective way to avoid colon cancer. His substantial risk of contracting lung cancer provides the key motivation for him to join a support group of persons at genetically high risk for serious complications of smoking, and he successfully kicks the habit.