Genetic Testing
As technology improves, scientists are finding how an individual’s genetic makeup affects the possibility of mental and physical health conditions. It also helps determine the likelihood of passing genetic mutations onto the next generation. This innovative science is one of the most controversial topics of conversation at the moment. Religious and political views match up against each other in this civic issue.
At the time of its inception, genetic testing only served to detect chromosomal abnormalities and mutations in single genes that caused rare, inherited diseases. This science has grown to now include detection of chronic disorders like heart disease and cancer.
There are multiple forms of genetic testing that are used clinically: diagnostic medicine, predictive medicine, pharmacogenomics, and whole-genome/whole-exome sequencing. According to the American Medical Association, diagnostic medicine determines whether an individual is living with a certain disease, predictive medicine measures the likelihood or “increased risk” of an individual to have a particular disease, pharmacogenomics looks to find a suitable drug for an individual based on their genetic makeup, and, finally, whole-genome/whole-exome sequencing searches for the causes of a disease by scanning an entire genome for genetic alterations.
This predictive side of genetic testing is the largest contributor to the “gray area” in this process. It must feel like a state of limbo for the patients when they learn of the prediction. If they tested positive, how accurate are the results? Or, should they take steps forward to treat a disorder that might not necessarily exist in their bodies at the moment? Couples go as far as choosing to forgo children because the mother or father carries a genetic disorder.
Prenatal genetic testing (PGT) has made one of the biggest splashes in the news due to
its heavy ethical implications. The Catholic Church has taken a strong stance on the issue. In Donum Vitae,the Church states that PGT is acceptable as long as the method employed “safeguard[s] the life and integrity of the embryo and the mother, without subjecting them to disproportionate risks.”PGT is even seen as the first step of parental preparation when the possibility exists that a child will be born with a disorder that requires unique care and treatment.
However, the linkage between PGT and the termination of a pregnancy due to suspected future birth defects ignites a fire of controversy since the Church is pro-life. Pope John Paul II described a “culture of death” that PGT could fit into since it serves as one of the first steps in the termination of human suffering at all costs. For example, anywhere from 84% to 91% of babies that tested positive for Down Syndrome during PGT are aborted.
Another question that stems from the PGT is to what degree of perfection will parents expect their offspring to be born into? As the testing become more precise and wide-ranged, some parents may take PGT as an “opportunity” to create the most ideal child and member of society.
Still connected to this abortion discussion in the increase in “wrongful birth” court cases where parents of children with birth defects sue doctors by charging the physician with culpable negligence. They argue that the doctor’s failure to find the “problem” prenatally prevented the parents from seeking out an abortion. Most states have banned “wrongful birth” cases. However, a Florida jury granted $21 million in July 2007 to a couple that now has two children with the same genetic syndrome but would have aborted the second if they were given this information during the pregnancy.
In a recent Supreme Court ruling, it was determined that DNA segments cannot be
subject to patent law, which had been on the rise with genetic testing, since DNA is a part of nature. A company named Myriad Genetics, Inc. found itself in some trouble after this ruling. Myriad Genetics, Inc. created the only genetic test for the BRCA mutation on the market. This mutation is a genetic variant linked to an increased risk in breast cancer.
The Food and Drug Administration has taken great steps in regulating genetic tests sold as kits. One of the companies producing personal genetic testing kits is 23andMe, which claimed their product could provide genetic data on 254 diseases and conditions. FDA concern grew when 23andMe could not address what the effects of false negative/positive tests would have on those testing themselves. Due to this finding, 23andMe stopped selling the testing kits but continued selling ancestry kits.
Besides reviewing these kits, the FDA has expressed little concern over how clinically meaningful genetic tests are. This is not acceptable. Even Congressional committees and members have been encouraging the FDA to take more action since the 1990s. While the FDA claimed back in 2010 that it would expand its review/regulation to cover all genetic testing, the agency still has yet to make major moves. Only two other federal agencies are even involved in this regulation. The Centers for Medicare and Medicaid Services review educational requirements for technicians, the quality control of lab processes, and proficiency testing. The third overall regulator, the Federal Trade Commission, looks into false and misleading advertising.
The results of genetic testing can produce such large gray areas that genetic counselors have come to play an integral role in the medical process. One of their most important jobs is to provide as much information as possible to patients and families on the risks of inherited disorders and birth defects and how they relate to cultural, personal, and familial contexts.Most patients and families need this information presented to them in a comprehensible manner because learning about a disorder of any kind immediately gets exaggerated in the mind. Depending on the results of the test, the counselor may even encourage relatives of the family to get the genetic testing.
Scitable, an online science research/blog site, poses this question: “For diseases with no preventative measures, would you want to know if you were affected?” Since this is a civic issues blog, I will not disclose my personal beliefs and am working to write in an unbiased manner on the topic. However, I do believe that this is an issue that everyone should think about at least a little. Genetic testing is only going to become prominent in the medical field and, as with all technology over time, more accurate.
