Work in Health Care: DNA Testing

A section of DNA; the sequence of the plate-li...

Genomics, or the study of function of genes, has created several important new career fields in health care. For example, if a couple suspects that they are carriers for a genetic disease, such as Cystic Fibrosis, Tay Sachs, or Sickle Cell Anemia, a doctor may may send them to for genetic testing to determine the risk of their offspring having the disease. The couple then goes to a DNA testing facility (either in a hospital laboratory or another DNA testing company) and has blood drawn. Specialists look at their DNA and determine the statistical probability of their offspring getting the defective gene for a specific disease. A genetic counselor can then explain the chances to the couple of having a child with the disease of concen.

Another example is a woman whose sister, mother, and grandmother all died of cancer may want to know if she carries a defective gene for BRCA1 or BRCA1 like her family, which increases her chances of developing breast or ovarian cancer. For her, a doctor may also suggest she get her DNA tested so that she knows whether she is at high risk and may want to get more frequent breast exams, mammography, or be more stringent about prevention. If she does not carry the gene, she could of course still get some form of cancer, but she may be able to reduce her fear and stress about the disease.

These are just two fairly common reasons individuals may decide to have their DNA tested at a genetic diagnostic laboratory. Other examples include testing for genetic risk of developing other diseases such as Alzheimer’s Disease, diagnosis and treatment of diseases, geneology, paternity, and ancestry, and forensics.

These diagnostic tests require experts in molecular genetics, genetic counseling, lab technicians and associates, among others. Therefore, this relatively new field may provide good job opportunities in health care that are slightly different from the traditional health care jobs, such as doctors and nurses. For example, consider the diagnostic testing laboratory at Massachusetts General Hospital.

Genetic testing

Genetic testing (Photo credit: Wikipedia)

Massacusetts General Hospital has a Neurogenetics DNA Diagnostic laboratory that “conducts molecular DNA diagnostic testing for over 25 rare neurodegenerative  disorders.” Their diagnostic laboratory has completed over 25,000 diagnostic tests since their funding began in 1994. they also screen for diseases such as “Norrie disease, NCL disease, dystonia disorders, and amyotrophic lateral sclerosis (ALS) disorders.” For more information on their testing, see their web site:

In addition to hospital laboratories, there also exist specialized companies that do genetic diagnostic testing, and the public may use them without seeing their doctor first. For example, if one wants to get a paternity test done, these companies perform those tests and many others without a doctor’s order. The field should have jobs for the forseeable future.

For general information on DNA and genetic testing, this is a good site:

International Society of Genetic Geneology site:

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