Genetic testing might come back to bite us

by James Simpson
Daily Journal
Thursday, July 3, 2003

The cover story of the June 1st edition of Time Magazine was titled "The Doctor Is Out." It acquaints readers with malpractice insurance and how soaring costs have forced some doctors to change specialties or leave their profession altogether. While insurance issues are forcing doctors to make significant professional choices, we have only seen the proverbial tip-of-the-iceberg.

Medical malpractice insurance is only one side of the coin. The other side is individual health care insurance. If you think we have problems now, what we face over the next few years might make today's issues seem insignificant in comparison. The reason, amazingly enough, is due to recent advances in genetic research.

Let me offer a short story about a friend of mine who recently became pregnant with her second child. It begins with a routine prenatal 8 week Obstetrician exam. Toward the end of the exam she was asked if she wanted to have a Cystic-Fibrosis (CF) screening test performed. This was not something that was asked when she had her first baby only a year and a half earlier. This test had only recently become available. She was told that it was a routine test these days, even if she had no family history of CF.

These types of tests are really nothing new. The alpha fetoprotein (AFP) test has been used for years to screen for birth defects. However, as scientists uncover more and more about our genome they will continue to discover specific genes responsible for certain diseases. Eventually this will lead to gene-therapy techniques that will cure certain diseases while the fetus is still in the womb. However, until then our country will likely suffer through the growing pains of genetic screening and insurance issues.

The Tuesday after her exam a nurse from the doctors' office called and told her that the test had come back indicating a "Part 1 Mutation," and that her husband should be tested. Two weeks later they had an appointment with a genetics laboratory where a "genetics counselor" informed them that the type of mutation she had is the mildest form of a positive result that can come back in a CF screening. Of course the two weeks of stress and worry in the mean time didn't help with her pregnancy.

After her initial test results came back, and she made the appointment for her husband to be tested at the genetic center, they sent her a booklet titled "Prenatal Testing and Genetic Counseling." What was shocking is that none of the items on the list of flags for people who should be screened for CF were relevant to her. Furthermore, the booklet states: "If you have an abnormal result from a screening test, you most likely have a healthy pregnancy, but you may want to have a diagnostic test performed. A normal result on a screening test does not mean you have a healthy pregnancy, but your chances of having a baby with certain problems are lower than most." So basically the screening test isn't necessarily all that accurate.

Additionally, the Informed Consent form that a patient signs prior to having the CF test includes the following statements, among others, in a list of disclaimers:
- I understand that the test does not detect all CF carriers.
- I understand that if one parent is a carrier and the other is not, there is still a very small chance that my baby will have CF. 
- I understand that if the baby has inherited a changed CF gene from each parent the only way to avoid the birth of a baby with CF is by terminating the pregnancy.

One disconcerting item to note at this point is that they were instructed that if his tests came back with mutations they might want to consider abortion as an option - even though the baby might not have CF. My friend felt that the abortion option was pushed even harder than getting an amniocentesis - which is a more definitive diagnostic test as opposed to a CF screening test. As she is adamantly opposed to abortion she asked if there was anything that could be done to help with her pregnancy or for the baby if it was discovered that it had CF - the answer was "no." Which of course led to her wonder why she had the test in the first place.

This brings me to the central issue of this column - genetic testing may eventually lead to certain folks being put on a list of those at "higher risk" than others, causing their insurance premiums to soar.

No one knows whose house will be the next to burn up. No one knows who will be the next person involved in an auto accident. This is the benefit of insurance; everyone pools a small portion of their money together with an insurance firm to protect us if an unexpected tragedy were to strike. Due to advances in genetic testing the concept is due to fundamentally change in the health insurance industry.

In this case, even if both parents carry the recessive CF gene there is still only a 25% chance that their child will have CF. However; now that this test has been performed the results are a permanent part of her medical record. If his test had come back positive (and fortunately it didn't), they may well have had their insurance premiums increased to cover the "potentiality" of their having a child with CF. Even if health insurance companies aren't doing this yet (and I don't know if they are) I don't think it will be long before they begin … especially in light of the skyrocketing costs of medicine and health care these days.

Unfortunately, this is most likely going to effect minorities sooner then American caucasians, due to recessive genetic diseases that are more common in people from certain ethnic backgrounds. For instance, diseases such as sickle-cell and Tay-Sachs tend to have a significantly higher representation in the black and Jewish communities.

I urge folks to seriously consider consenting to new genetic screening tests unless they are deemed essential by their doctor. The results of such tests become part of your permanent record, even if they are not 100% certain as is indicated by the CF test information provided above. After all, virtually everyone carries some type of recessive disease in our genes.

James Simpson lives in Lake Ridge. His column runs the first Tuesday of the month and he welcomes reader feedback. He can be reached at JamesSimpson@aol.com.