Posts Tagged ‘personalized medicine’
For years, scientists and medical professionals have been searching for the holy grail that is personalized medicine. Here, at the American Biotechnologist, we too have been enamored by the concept and have written many articles in its support, (see for example Genomes, Phenomes and Personalized Medicine and Andrew Hessel is a Seer…Personalized Medicine is Very Near). Yet, although many personalized medicine crusaders have gone to war, few battles have been won.
In an unfortunate turn of events, a recent publication out of Harvard University has found that a person’s genetic profile is a very poor predictor of disease and of little use in clinical practice. The study looked at genetic variations associated with breast cancer, type 2 diabetes and rheumatoid arthritis and found that knowledge of these variations only resulted in a 1-3% increase in risk prediction sensitivity. Hardly anything to get excited about.
Does this mean the end to personalized medicine? Of course not! However, it does mean that readers should be skeptical when hearing stories about the great predictive powers of genomic information and need to make sure to keep their scientific glasses on in order to avoid getting swept up by the excitement.
For more information see Knowing genetic makeup may not significantly improve disease risk prediction.
Aschard, H., Chen, J., Cornelis, M., Chibnik, L., Karlson, E., & Kraft, P. (2012). Inclusion of Gene-Gene and Gene-Environment Interactions Unlikely to Dramatically Improve Risk Prediction for Complex Diseases The American Journal of Human Genetics DOI: 10.1016/j.ajhg.2012.04.017
Anyone familiar with scientific advances in the last few years should be well acquainted with the Personal Genome Project (PGP) launched by Dr. George Church in this 2005 Nature editorial. For those of you who have been living in a secluded cave somewhere for the past 6 years, the Personal Genome Project hopes to enroll 100,000 participants from the general public who are willing to have their genomes sequenced and allow the results to be published in a massive database along with extensive information about their traits and medical history. It is hoped that the information provided will help scientists test hypotheses about the relationships among genes, traits, and environment.
Perhaps less well known is what it takes to become a volunteer for this project. In order to enroll as a volunteer, potential participants must take an entrance exam that tests basic genetics literacy, informed consent expertise, and knowledge about the rights and responsibilities of human research subjects. That’s right…you must take a test and score 100% in order to qualify for participation in the study!
In order to help volunteers study for this exam, the Alan and Priscilla Oppenheimer Foundation have created a Personal Genome Project Study Guide which has information on:
- genetic material
- gene transmission
- gene expression
- gene regulation
- genetics and society
- project literacy
We thought that it would be fun for readers of this blog, who should be more familiar with the above topics than the average PGP volunteer, to take the practice tests associated with the study guide to see how much they actually remember from their first year courses! The tests are multiple choice so that should help prevent total embarrassment, but my guess is that most of us would not score 100% without preparing in advance. I took the gene transmission test and scored 9/10. Not enough to qualify as a volunteer!
Try your hand a the tests below and let us know how well you performed. Good Luck!
- Introduction to Cells, DNA, and Genes
- The Structure of DNA
- DNA’s Role in Determining Your Traits
- Gene Expression and Personal Traits
- Coding for Proteins
- Controlling Protein-Coding Genes
- The Benefits of Applying Genetic Technology to Health Care
- The Risks of Applying Genetic Technology to Health Care
- Participating in the Personal Genome Project
- Human Research Subjects
In a paper recently published in BMC Medical Genomics, scientists from Sandra L Rodriguez-Zas’ lab at the University of Illinois have identified a cohort of biomarkers that help predict survivability of patients who are afflicted with the aggressive malignant Glioblastoma multiforme brain tumor. The study also found that survivability varies between different genetic profiles and that factors such as race, gender and therapy may have a significant impact upon the survival and quality of life of individuals afflicted by glioblastoma multiforme.
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Those of us in the medical research community think of ourselves as contributors to patient heathcare both in the areas of disease diagnosis and treatment. However, our contributions are not always recognized and it can be challenging to directly correlate the results of our experiments with a practical medical application. However, I believe that a new research challenge issued by the X PRIZE Foundation and Qualcomm Foundation may change all that and give medical researchers the recognition they deserve.
According to the announcement, the goal of the challenge will be for teams to leverage technology innovation in areas such as artificial intelligence and wireless sensing – much like the medical Tricorder of Star Trek® fame – to make medical diagnoses independent of a physician or healthcare provider.
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