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title: Personalized Genomic Medicine: Are We and Our Doctors Ready? [ Print ]

author : tianzc time : 2014-2-20 10:54
title: Personalized Genomic Medicine: Are We and Our Doctors Ready?
Entangled with the national debate about the future of healthcare, theres a personal debate about the future of medicine. Futuristic medicine will rely on personal genomics, because as consumer-patients, we will demand more integrated more holistic — less segmented medical care from our doctors. Personalized genomic medicine is not only our pipe dream for future, it is here, now. But, are we ready? Are our doctors ready? Are healthcare policy makers ready?

In June 2009, I gave a speech at the first Consumer Genetics Conference in Boston, where Dr. Francis S. Collins gave a riveting keynote speech. I was on the panel of speakers because I am a long-term consumer of genomics, having started in 1999, after reading that Dr. Collins and other geneticists were able to use DNA to trace human ancestors. I used DNA to trace ancestors to dozens of ethnic groups in Africa, and confirm my specific ancestral families in Ghana, West Africa. I have always been grateful to Dr. Collins and the other geneticists. This week, President Barack Obama nominated Dr. Francis S. Collins, a physician and genetic researcher, as Director of the National Institutes of Health (NIH), the governments research laboratory in Maryland. Previously, Dr. Francis Collins directed the publicly-funded team at the National Human Genome Research Institute (NHGRI).
The public team he led brought us the Human Genome Project, which sequenced the human genome in 2000, completing the sequencing in 2003. He was locked in a fierce race to the finish line against J. Craig Venter, CEO of the private venture, Celera Genomics. Venter also sequenced the genome. Medical research, then and now, happens in waves, and is a race to the finish line by leaders and teams in the public, academic and private sectors.
At the Consumer Genetics Conference, the private, academic and public sectors were fully represented. As an author who has written about using DNA, genealogy and American family history to trace my ancestors to Ghana and Scotland, I was one of the few speakers on the panel who was not a MD/Ph.D. or CEO of my own biotechnology company. Other speakers were Kari Stef谩nnson, CEO of DeCode genetics, Linda Avey, Co-CEO of 23andMe, and CEOs of the countrys leading genetics companies. So today, while consumer-patients and politicians debate the future of healthcare and healthcare funding, biotechnology and pharmaceutical companies race ahead at the speed of light to develop personalized medicine. They race to tailor diagnoses, prescriptions and treatments to the each patients DNA.
Dr. Francis Collins speech at Junes Consumer Genetics Conference was very forward-looking and inspirational. He focused on how we can make the present and future delivery of medicine more efficient and more effective; how we can respond to what has to be researched and developed in genomic and molecular medicine; how we remain aware of current research and what is neglected or overlooked; and what we must all remember about scientific research and scientific progress. Scientific progress is unique and it explores the unknown.
Personalized medicine, he said, is at the frontier of medical research, it is the future of medicine. Cooperation and collaboration among the government, academic and private sectors must be fostered. Knowledge of the genome will revolutionize medicine, but for preventive medicine to be effective, there has to be usable data from a study that gives a genetic profile of the population. He called such a study, massive.
Now, as the Director of the National Institutes of Health, Dr. Collins will manage a $37 billion research fund, which will distribute grants for medical research and development. But how much will be used to train and retrain doctors in personalized medicine and genomics?
I spoke at the conference about how my use of ancestral DNA, what some at the conference called, recreational genetics led to medical genetics. I also highlighted the challenge of educating doctors and patients and finding doctors who are knowledgeable enough about genetics to diagnose and treat rare, unusual genetic-based symptoms or common ailments that have a genetic connection. I echoed and illustrated what Dr. Francis Collins said about integrating family history in genomic research, and how vital it is for doctors to be able to decipher genetic tests and in report genetic results to patients. He said family history must be an integral part of genomic research. I said not only personal and family history but ancestral history must be weighed when developing a patients medical profile.
Is it possible that some of us are genetically predisposed to be interested in genetics? From my search in 1999 and 2000, I was able to confirm the specific Ghanaian individuals and families who are my ancestral cousins, and discover others. I was impressed with the diversity in my ancestry. Among the groups in my ancestry, there are dozens of ethnic groups and ancestral cousins in Africa, especially in Ghana, one group in the Middle East, ancestors who were Maroons, escaped slaves in the Caribbean, and nobles in the British Isles. I interviewed elders in New York and in the Caribbean in Jamaica, and corresponded with ancestral cousins in Ghana in West Africa and in Scotland in the British Isles, specifically nobles who are related to the royal families of Scotland and England, including current and retired members of the British Parliaments House of Lords. (I was granted my Scottish ancestors coat of arms in 2005.)
''So this weeks report on genomic medicine was fascinating, not only because of its thoroughness, (it covered the American progress better than many American reports), but because of its source. It shows which thinkers and policymakers are preparing for the future of medicine.
A riveting 126-page study and report, Genomic Medicine, from Britains House of Lords, the upper house of Parliament, echoed Dr. Francis Collins statements that genomic medicine must be at the frontier of medical research, because it is the future of preventive medicine and effective treatment, and personalized medicine. The House of Lords Science and Technology Committee reported that personalized genomic medicine is not only in our future, it is already here. The committee emphasized that genomic medicine must become an integral part of medical training. Medical schools must instruct doctors, not only about rare single-gene inherited diseases such as cystic fibrosis, Huntingtons disease, hemophilia and sickle cell disease, but they must educate them about the internal and external environments and genetic predispositions that trigger common diseases such as cancers, coronary heart disease, rheumatoid arthritis, diabetes and obesity.
This future wave is called epigenetics the study of how diseases are influenced not only by changes in one gene but by changes and the interaction of many genes. Its an examination of the internal and external environments in which our genes are triggered, get turned on, or turned off, unleashing or squashing a predisposition to disease. Doctors must be educated about environmental factors, internal molecular changes, personal family history and ancestry, which are factors in the diagnosis and treatment of diseases.
Doctors must be trained how to tailor individual genetic profiles in prescribing drugs what is called pharmacogenomics. Given the results of patients genomics and molecular tests, they should know which drugs produce a positive response and which produce an adverse reaction.
The House of Lords report discusses how genomics will play a vital part in improving the drug development pipeline, how it will result in more effective and safer drugs, and how we will be more prepared to face social, legal, ethical and private genetic challenges. The lords report highlights how traditional government-funded and private medical training must recapture the genomic field and get ahead of the commercial front runners. But it also says, the commercial direct-to-consumer companies such as deCODEme and 23andMe should be carefully regulated, not restricted.
The most dramatic statements in the report says, The new knowledge of these genomic studies is still very fresh. Genomics-based prevention of disease is in the future. But the use of many types of genomic tests is increasing rapidly, and will have a dramatic impact on disease diagnosis and management.
The effect of these developments are, This is already placing strain on the expertise of doctors, nurses and healthcare scientists who at present are poorly equipped to use genomic tests effectively and to interpret them accurately. . . . (Britains House of Lords Genomic Medicine Report).
The responses in the press were alarming. The London Times Online reported that the members of the House of Lords Science and Technology Committee who did this study is composed of scientists, doctors and philosophers. (Members in the House of Lords inherit their seats as peers or are appointed as leaders in a given field.) And, It is hard to imagine even a body like the US Senate producing a report of quite this quality and authority. So all I can say to Dr. Francis Collins is, as the medical research branch of the U.S. Department of Health and Human Services, he has to build the best medical research team possible. His team has made major discoveries about genes and rare and common diseases, from cystic fibrosis to cancers, neurofibromatosis, Huntington’s disease and type 2 diabetes. But as he said at the Consumer Genetics Conference, scientific progress means facing the unknown.
The British have laid down the gauntlet. So let the medical research race and the debate begin.
Pearl Duncan
The author is completing a book about she used DNA, genealogy, rare historical records and folk narratives to trace her ancestors.
Pearl Duncans articles
Pearl Duncans website
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