52 PRACTICE TRENDS SEPTEMBER 1, 2009 • INTERNAL MEDICINE NEWS GENETICS IN YOUR PRACTICE Dr. Francis S. Internist-Geneticist to Head NIH Collins Begins As

he internal medicine commu- Human Genome Project. He was also wide association studies are important NIH Director nity should be encouraged involved in locating a gene for proge- steps in that direction. Tthat President Obama recent- ria, a disease of premature aging that The idea that genetic testing could r. Francis S. Collins, former director of the ly tapped Dr. Francis S. Collins, an in- causes teenagers to develop adult-on- be widely used to assess the risk of fu- DNational Human Genome Research In- ternist-geneticist, to lead the largest set diseases of senility. ture disease promises to expand the stitute, become director of the National Insti- biomedical research enterprise on the The appointment of an internist-ge- role of genetics into disease preven- tutes of Health on Aug. 17 after being ap- planet. As director of the neticist will highlight the tion. As proposed by Dr. Collins, the proved unanimously by the Senate earlier in National Institutes of importance of applying ge- ability to employ genetic markers for the month. Health, Dr. Collins will netic principles to the di- risk assessment for future diseases or “The National Institutes of Health stands as play a major role in shap- agnosis and management for predicting responses to medica- a model when it comes to science and re- ing our nation’s basic sci- of adult-onset diseases. tions, for example, would usher in an search,” President Obama said when he nom- ence and translational re- Genome-wide association era of “personalized medicine.” Thus inated Dr. Collins for the post in July. “My ad- search agenda. studies (“2008: Year of the a patient’s own genetic makeup (fam- ministration is committed to promoting A substantial propor- GWAS,” Feb. 1, 2009, p. ily history and select genetic markers) scientific integrity and pioneering scientific re- tion of the research pub- 28), with the prospect of would allow treatment and preventive search, and I am confident that Dr. Francis lished in the major clinical widespread use of next- efforts to be individually customized. Collins will lead the NIH to achieve these journals read by internists generation DNA sequenc- We are still several years away from goals. Dr. Collins is one of the top scientists in are supported directly or BY MATTHEW ing just around the corner, implementing this in the clinic, since the world, and his groundbreaking work has R.G. TAYLOR, current studies are just starting to iden- indirectly by NIH dollars. M.D., PH.D. are positioning scientists to changed the very ways we consider our health This summer the NIH re- dissect the genetics of com- tify the genetic risk markers for com- and examine disease. I look forward to work- ceived roughly $10 billion plex diseases and to under- mon diseases. However, Dr. Collins’ vi- ing with him in the months and years ahead.” additional money as part of Presi- stand gene-environment interactions. sion no longer appears as “futuristic” Dr. Collins oversaw the federal Human dent Obama’s economic stimulus ef- These advances will increase our as it did when he championed this ap- Genome Project, which finished the complete fort. understanding of many common dis- proach a decade ago. In early 2010, Dr. mapping of the human genome in April 2003, The presence of an internist-geneti- orders of adulthood (obesity, hyper- Collins will publish his latest in a series at about the same time as a parallel private ef- cist at the helm of the NIH is likely to tension, atherosclerosis, diabetes) and of genetics-related books, which will fort. Dr. Collins’ research also has led to the dis- foster more research on adult-onset shed light on genetic variants that in- center on the movement of personal- covery of several genes. He is interested in the conditions. Dr. Collins is best known fluence disease risk. ized medicine from research to the intersection of science and faith and has writ- for his contributions as a geneticist, and Indeed, Dr. Collins has predicted clinical arena. If his past works are any ten two books on the topic. although most clinical geneticists are that genetic testing will continue to indication, the latest book will be Dr. Collins received a bachelor’s degree in trained in pediatrics, Dr. Collins’ career move beyond the realm of diagnosis thought provoking and challenge us to chemistry from the University of Virginia, a reflects his internal medicine roots. and further into risk assessment. In a keep pace with the forces coming to Ph.D. in physical chemistry from Yale Univer- He has been centrally involved in dis- 1999 review, he presented a hypothet- bear on internal medicine and our sity, and a medical degree from the University covering genes for conditions that are ical scenario of a 23-year-old man vis- health care system as a whole. ■ of North Carolina. Before coming to NIH in not exclusive to children, including iting his primary care physician in the 1993, he spent 9 years on the faculty of the Uni- Huntington’s disease, neurofibro- year 2010. Family history and molec- DR. TAYLOR is associate professor and versity of Michigan, where he was an investi- matosis, cystic fibrosis, and multiple ular genetic testing for risk variants director of adult clinical genetics at the gator at the Howard Hughes Medical Institute. endocrine neoplasia. Throughout would be done to develop an individ- Health Sciences Center of the University He is a member of the Institute of Medicine much of the 1990s, he was director of ualized screening and prevention strat- of Colorado, Aurora. To provide and the National Academy of Sciences, and the National Center for Human egy. Although this tailored approach is feedback or suggest future topics, write was awarded the Presidential Medal of Free- Genome Research, which coordinated not likely to be in widespread use by to Dr. Taylor at our editorial offices or dom in November 2007. the NIH’s work on the International 2010, the successes of recent genome- [email protected]. —Joyce Frieden NIH-Pharma Collaboration Urged to Advance Drug Pipeline

BY JOYCE FRIEDEN identifying promising targets for drugs, “but relatively working on even a very rare disease in this pipeline.” few are taking that information and turning it into an “We have an opportunity to take [the new tech- WASHINGTON — The National Institutes of Health assay ... to see if there is something promising that nologies] that have started to appear and apply them needs to partner more with the pharmaceutical indus- might turn out to become a therapeutic.” in a vigorous way to understand fundamentals of bi- try in order to create a better pipeline for new drugs, Some targets start out looking promising, but when ology, That would include genomics and nano- Dr. Francis Collins said at the annual meeting of the they get to a point where they technology and a wide variety of Endocrine Society. need support for preclinical de- ‘There is an approaches to epigenetics,” he Dr. Collins, who recently began work as NIH director, velopment, “that’s where things opportunity now said. said that with all the developments now occurring in ge- often die,” he said. “Congress just … to put together “I would also think we need to nomic research, “pharmaceutical companies are a little a few months ago put $24 million a really exciting take seriously the charge coming overwhelmed about where to start” when it comes to fig- into the fiscal year 2009 budget to version of a drug from the Congress and the Ad- uring out which genes would make good targets for drug start this process in an NIH-fund- development ministration to provide useful in- therapy. ed way, and I hope the money pipeline.’ formation to guide health care “Academic investigators should get more intention- will go up substantially in the reform. That would mean, in ally involved in the translational process of going next 5 years.” DR. COLLINS some instances, comparative ef- from basic research to drug development,” Dr. Collins Conflicts of interest on the part fectiveness research, but we need said before his nomination and confirmation as NIH of pharmaceutical companies “would have to be factored to be careful not to lose the personalized aspects of in- director. in,” Dr. Collins said in an interview. Drugmakers’ inter- dividual [health] along the way.” “There is an opportunity now, more than ever, to est in commercialization would be a factor. “You want Global health should also be an NIH focus, he said. bring together academic investigators and the private to start a project that is going to get somewhere,” he said. “The U.S. is in a position to spread more soft power sector to put together a really exciting version of a drug “But there are companies across the board that are in- instead of hard power around the world; NIH ought development pipeline,” he said. terested in almost any disease—even very rare ones—as to be able to play a useful role in that. And we should Such a collaboration “involves more of academics long as it won’t cost a fortune to get that drug approved. encourage the research community, including young taking the front-end risk of developing promising com- For the rare diseases, you may have to push things fur- investigators, and increase the diversity of our work- pounds so they become attractive and licensable by the ther down the pipeline with public money before the force, to make it vigorous and effective. I think if we private sector.” company says, ‘Okay, I’ll start with that one now,’ but I focus on a few of those things ...we can really get some Dr. Collins noted that many academic researchers are don’t know that that should discourage consideration of stuff done.” ■