-- Using genomic sequence in diagnosis
Medicine is currently practiced in a reactive mode. The patient becomes ill and eventually comes in for evaluation. In order to decrease health care costs and improve the quality of health care delivery, there is a growing need to become more proactive by practicing preventative medicine and wellness. The sequencing of the human genome has issued the first real promise of personalized preventative medicine for the near future.
While single gene disorders are estimated to affect up to 5% of the population, it is becoming evident that conditions that are polygenic (more than one gene) or multifactorial (more than one gene and those with potential gene-environment interactions) are more prevalent than previously thought. Studies indicate that 25–35% of some common cancers, including breast, bowel and prostate cancers, have a heritable component. The identification of genes predisposing to breast, ovarian and colon cancers has led to an increase in the number of people referred to cancer genetics services. Regional genetic services continue to work in partnership with general practice in the care of families with Mendelian and chromosomal disorders; however, as medical genetics shifts to encompass more common disorders, the physicians of the future will have to deal with progressively more genetic information.
Technology development has accelerated to a point that it is clear that genomic sequence will be a basic component of medical care before today’s medical students complete their residencies. This interactive computer laboratory is designed to allow the student to be involved in practical and ethical decision making based on symptom presentation, family history, and genetic test results. In addition, they will have the opportunity to utilize genomic sequence analysis tools to aid them in their diagnosis.
This lab was designed by Elizabeth Worthey, PhD, Diane Munzenmaier, PhD, Howard Jacob, PhD, and tested by many other members of the Human and Molecular Genetics Center.
We would like to thank the BRC for development of the tool. We would like to thank our clinical colleagues for their careful review of these modules and for their helpful suggestions.
David Dimmock, MD
Micheal Earing, MD
Angela Pickart, MS
Pamela Trapane, MD