New England Regional Genetics Group

Prevention, Diagnosis, and Management

Arriving at an Accurate Diagnosis

Woman scientist touching DNA molecule image at media screenA genetics professional (geneticist or genetic counselor) will analyze the family history and the symptoms being experienced, and make a hypothesis (an educated guess) as to which genetic issue(s) might be at work.

Based on that hypothesis and their knowledge of genetics,  the genetics professional would then order tests to determine a firm and accurate diagnosis based on this person’s genetic makeup.

Until recently, most genetic tests were for one specific gene. It was up to the geneticist to determine in advance which particular gene to test. Today, however, the technology has improved to permit us to examine a number of genes at the same time. For example, there are some 19 different genes that can increase your odds of having a pheochromocytoma, a tumor of the adrenal gland. There is no way to tell which of these genes might be altered without doing a genetic test. And depending on the outcome of the test, the treatment for the tumor and the management of this patient’s health will need to be somewhat different. There are now “panels” of genes that test for a group of related genes like these all in one test, with one blood sample, one testing procedure, and one fee for service.

Costs will continue to go down as the technology improves. Soon it will be possible for a reasonable cost to analyze the entire genome. It is still early, however in our understanding of what this all means, how to understand it, and how to apply this information to a realistic plan of management. We are all still learning together.

Management and Prevention of the worst consequences of genetic conditions

Genetic counselor with a coupleMost genetic conditions have implications for more than one issue.  They are frequently not confined to a single organ system that might be managed by a single specialist.  More often they cross multiple specialty areas.  HLRCC for example has skin, kidney, and gynecological aspects.

A person or family affected by such a condition needs a coordinator of care who is familiar with the genetic condition and its possible implications for health, and who can recommend the necessary tests and monitoring to keep these aspects healthy and well cared for.

A genetics professional:

  • Can counsel the family about which members of the family might be at risk and might need to get genetic testing to determine whether or not they are affected.
  • Carrying a genetic trait is not a certainty that a problem will occur, but it does raise the odds of problems occurring in particular areas.
  • Knowing that someone carries a genetic trait provides the opportunity to monitor that person’s health, watching out for and hopefully finding issues when they are small and most likely to be treated successfully.
  • A genetics professional can coordinate the individual’s care, or can consult with the primary care physician to recommend a program of management to be overseen by the primary care physician.