The Human Genome Project has heralded a new era in our understanding of the molecular basis of disease. Genome-based medicine or personalized medicine is believed to be the future of healthcare. Indeed, genomic medicine is poised to improve disease diagnosis, therapy and prevention.
Although genomics is related to genetics, there is a difference between the two terms. Genetics is the study of single genes and their effects. In contrast, genomics is the study of all the genes in the genome and the interactions among them and their environment. Genetics uses the information from one or two genes to describe a disease state, whereas genomics examines all genetic information to determine biological markers predisposing a person to disease. Genomics is especially relevant for complex or multifactoral disorders such as cancer, Parkinson’s disease, heart disease and diabetes, which are due to the interaction of multiple genes and environmental factors .
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With the sequencing of the human genome and the development of genomic technologies, medicine is entering a transition period whereby specific genetic knowledge will be critical for the delivery of effective healthcare. Many questions surround the state of this transition. A recent systematic review published in the Journal of the American Medical Association attempted to synthesize peer-reviewed published information on the delivery of genomic medicine for common adult-onset chronic diseases such as cancer, diabetes and coronary heart disease . While advances in genetics and genomics have been extensive, the review found a large disparity between what is known and what is needed by healthcare professionals :
Our systematic review reveals a large gap between what knowledge is available and what health systems still need to know about the outcomes, consumer needs, organization of health services, and barriers, to ensure appropriate and effective clinical integration of genomic information and technologies for common chronic disease.
Dr. Steve Murphy frequently discusses this disparity at Gene Sherpas: Personalized Medicine and You. Steve is also the founder of Helix Health, the country’s first stand-alone genomic medicine practice.
To educate and promote personalized medicine, Steve has announced that Helix Health will host at minimum monthly podcasts on a variety of topics.
The first event is a free 90-minute webcast titled “How Genomic Medicine is Changing the Management of Breast & Ovarian Cancer.” The webcast is scheduled for this Wednesday, May 21st, from 1:00 — 2:30 pm EDT .
The webcast will feature David Ewing Duncan, bestselling author of Masterminds: Genius, DNA and the Quest to Rewrite Life and Chief Correspondent and co-host of National Public Radio’s “Biotech Nation”, a panel of distinguished medical and legal professionals, and Jessica Queller, author of Pretty Is What Changes: Impossible Choices, The Breast Cancer Gene, and How I Defied My Destiny.
The group will discuss how the doctor-patient relationship is changing and what the potential liability is for physicians in this transition period for genomic medicine and breast & ovarian cancer.
- What should a doctor and patient do when a patient tests positive?
- What is the risk in taking a “wait and see” approach?
- Are there alternatives to radical surgery?
- What are potential tort issues in predictive genetic testing and medical uses of
To register for the free webcast, point your browser here: http://event.netbriefings.com/event/helixhealth/register.html
The Helix Health webcast should be very informative. I anticipate an interesting discussion on genetic testing, genomic medicine and breast & ovarian cancer, and encourage everyone to register and listen in this Wednesday, May 21st.
Guttmacher and Collins. Genomic medicine — a primer. N Engl J Med. 2002 Nov 7;347(19):1512-20.
Scheuner et al. Delivery of genomic medicine for common chronic adult diseases: a systematic review. JAMA. 2008 Mar 19;299(11):1320-34.
- How Genomic Medicine Is Changing the Management of Breast & Ovarian Cancer. Helix Health Press Release. 2008 May 16.