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Published: January, 2011; Vol 7, Num 8


Genetic Testing: FYI or TMI?

Some genetic traits are obvious: hair and eye color, nose and chin shape. Others are less apparent: the possibility of developing migraine headaches, type 1 diabetes or certain cancers.

Alternate description

LHSFNA Management
Noel C. Borck

“Your genes can be personal health billboards, touting both good news and warnings,” says the LHSFNA’s Management Co-Chairman Noel C. Borck, “but only if they are read. With advances in genetic testing, a great deal of this once elusive information is now available. The questions are should it be and, if so, to whom?”

Requiring little more than a finger prick or a cheek swab, genetic testing examines your DNA for markers that may indicate certain illnesses and disorders or the predisposition or likelihood that you or your child will develop them. Currently, more than 1,600 genetic tests are on the market. The National Institutes of Health (NIH) is compiling a Genetic Testing Registry (GTR), where genetic test providers can voluntarily submit findings. Beginning next year, this information will be accessible to researchers, consumers, health care providers and others.

Genetic testing can serve any of five purposes:

  • Diagnostic: If you have a genetic illness like polycystic kidney disease (PKD), which can be asymptomatic for years, genetic testing can help assess your risk so you can make lifestyle choices to prevent potential high blood pressure and kidney failure.
  • Presymptomatic: If you have a family history of a genetic condition, such as early-onset Alzheimer’s disease, genetic testing before you have symptoms may show if you are at risk.
  • Carrier: If you or your partner have a family history of a genetic disorder, such as sickle cell anemia or cystic fibrosis, genetic testing can determine if you carry a copy of the altered gene that could put future children at risk.
  • Prenatal: If you are pregnant, genetic testing can detect abnormalities in your fetus' genes for disorders like spina bifida and down syndrome.
  • Newborn screening: In most states, newborns are tested for gene abnormalities that cause conditions like congenital hypothyroidism, which can lead to intellectual disability and abnormal growth and phenylketonuria, which can lead to mental retardation. If these disorders are found, care and treatment can begin right away.

However, critics argue that while genetic testing can help determine health care for a condition before it becomes full blown and can assist with family planning, it can also be expensive, is not always covered by insurance and is not infallible. False-positive, false-negative and inconclusive results can lead to more tests, inappropriate medical decisions, unnecessary lifestyle changes and anxiety. Even accurate results can increase apprehension and provoke poor health care decisions. For example, having a breast cancer gene indicates high risk for developing breast cancer, but does not mean that the disease will definitely occur. Nor does absence of the breast cancer gene indicate that mammograms are unnecessary.

Privacy is another concern. The Genetic Information Nondiscrimination Act (GINA) protects applicants and employees from bias based on genetic information in hiring, promotion, job training and other aspects of employment. It also prohibits health insurers from denying coverage. However, GINA does not apply to life, disability and long-term care insurance. Companies can review medical records when deciding if they want to grant policies and how much it will cost if they do.

Genetic counseling can help you decide if the insight you stand to gain from a genetic test outweighs the negatives that can also result.

“Genetic testing should not be embarked on lightly,” warns Borck.“While the information gained can create opportunity for action and peace of mind, it can also potentially open the door to a host of troublesome issues. As with other important health decisions, always consult your physician before proceeding.”

[Janet Lubman Rathner]