How might personal genetics impact medicine and health care?
Currently, having your genome sequenced would be similar to having thousands of genetic tests done at the same time – you would learn quite a bit about your genetic make-up, but the information that would be gleaned from your sequence would be limited to the parts of the genome that are already well understood. However, if many people have their DNA sequenced and provide their medical history as well as a detailed physical description of themselves, personal genome sequencing could be a powerful tool for learning more about the parts of the genome that are poorly understood.
Currently, having your genome sequenced would be similar to having thousands of genetic tests done at the same time – you would learn quite a bit about your genetic make-up, but the information that would be gleaned from your sequence would be limited to the parts of the genome that are already well understood. However, if many people have their DNA sequenced and provide their medical history as well as a detailed physical description of themselves, personal genome sequencing could be a powerful tool for learning more about the parts of the genome that are poorly understood.
Essentially, the power of sequencing comes from the exercise of comparing genotype and phenotype; by analyzing the genomic sequences (genotypes) and physical characteristics (phenotypes) of millions of people, personal genome sequencing has the potential to link specific traits to specific genes. The most obvious benefit of these analyses will be to better understand the interplay of nature and nurture in known diseases, with the hope that they would lead to better treatments, cures, preventative measures, and healthier generations of children.
Notably, the field of pharmacogenomics is one area where there have already been many successes. Our DNA can impact how we respond to drugs, which can help people decide what sorts of drugs are best for them, and also how we metabolize certain drugs also has a genetic component.
Recently, there have been several examples where genome sequencing has resulted in both a diagnosis and treatment plan of a patient. "One in a billlion: A boy's life, a medicial mystery", written by Mark Gallagher and Katherine Gallagher, describes many of the scientific and personal issues that underlie the emerging field of medical sequencing.
Physicians and personal genomes
Doctors will be faced with many questions as personal genome sequencing drops in cost and interest in genetics increases. Furthermore, a recent study conducted in the United States shows that a large majority of the population is willing to participate in studies about genes, the environment, and health.
In this time when the promises of personalized medicine outpace some of the realities in the clinic, physicians will increasingly be managing expectations of patients and interpreting the latest scientific discoveries and policy guidelines issued from insurers.
pgEd is in the process of developing a short list of papers that we hope will give doctors and other medical professionals a baseline understanding of the issues and serve as a jumping off point for more in depth reading. We also recommend the resources that have been created at the Beth Israel Deaconess Medical Center's Genomic Medicine Initiative.
