The Future of Genetic Testing
by Ivy Shi
Angelina Jolie shocked the world when she had a preventative double mastectomy following a genetic test which found a breast cancer related gene. Her chances of developing breast cancer dropped from 87 to five percent, but it raised many questions about the ethics of genetic testing. Lisa Parker, Ph.D., professor of human genetics and director of the Graduate Education for the Center for Bioethics and Health Law at Pitt, discusses these questions with me over coffee. Her casual attire disguises a sharp expertise in bioethics.
“There is no way to classify genetic testing as solely good or bad,” she tells me. “In the case of genetic testing for diseases that are not treatable, each individual person will take the information differently. Two people might find they are likely to develop dementia in their later years. One might respond to the news with despair and depression, while the other may conversely be driven to make his younger years more meaningful and productive.” The necessity to relay results to those patients who opt for genetic testing may also add a burden to physicians who must strive to “do no harm.”
I asked Robert Ferrell, Ph.D., another professor of human genetics at Pitt, how he felt about this issue. His office is cluttered with equipment and documents featuring the genetic code, his life’s passion. I was surprised to learn that I had in fact, without my knowledge, been genetically tested before. “All newborns in the US are tested for Phenylketonuria, or PKU,” Ferrell informed me. PKU is a genetic disorder in which the subject cannot produce the enzyme phenylalanine hydroxylase, which is used to break down phenylalanine (PHE), found in common foods like beans, meat, cheese, and nuts. PHE buildup will lead to mental retardation and seizures, but these effects can be limited by eating a low PHE diet. “Our mental hospitals used to be filled with victims of PKU who had become mentally retarded,” described Ferrell. “Now there’s virtually no one in them who are PKU patients because we identify them early.”
Ferrell plans to retire in the upcoming year and informed me that, personally, he would like to know about upcoming diseases he might encounter in his future to better plan for his retirement and make arrangements with his family. Genetic testing could influence major life decisions, such as what job to pursue, how much money to save, and whether to have biological children.
In 2004, one family, who has elected to remain anonymous, had twin boys. The family had a history of Duchenne muscular dystrophy, a disease that causes degeneration of voluntary muscles. The disease reduces average life span to about 20 to 40 years, depending on its severity, and there is no cure or treatment. Thankfully for the family, both boys tested negative for Duchenne muscular dystrophy. “It gave us all such peace of mind, knowing that our boys weren’t going to have to suffer from the disease their whole lives,” the mother described. “We knew what to expect, and it gave our family a great sense of relief and security.”
“In the end, genetic testing is a personal choice,” Parker comments. “Each person’s decision depends on many factors that cannot be controlled for in the doctor’s office.” The ability to make constructive life changes based on the information provided by genetic testing varies with each person and each situation.
Experts debate over whether parents, as the most influential players in child development, should be granted absolute access—or conversely denied access—to their child's genetic information. While the information may be useful in making choices for raising children, it could also be a self-fulfilling prophecy. As Stephen R. Covey notes in his book “The 7 Habits of Highly Effective People”, children are more likely to manifest a particular strength or weakness if their parents assume they have that characteristic and treat them accordingly. However, in a TIME magazine interview, Misha Angrist, Ph.D., of the Duke Institute for Genome Sciences 8: Policy states, “Parents should be given access to this information that’s derived from their bodies and their children’s bodies. This information is for everyone. It’s scary because we have chosen to make it scary.”
Genetic information has also become a hotbed for discrimination. An employer may not hire, or an insurance provider may not cover, someone who has a higher risk of cancer or Huntington’s disease. However, the Genetic Information Nondiscrimination Act (GINA) signed into law in 2008 was intended to limit instances of such discrimination. Still, Parker notes, that “There might be some discrimination, unofficially. However, we discriminate genetics everyday. People who are good looking, smart, or good-natured reap the benefits of their genetics every day.”
The price of genetic sequencing is dropping—currently it costs as little as $7,500—and testing is more widely available. Whatever the answers to these questions, one thing is evident: genetic testing certainly has a large role to play in our futures, and the potential benefits and consequences of this technology should be discussed openly with the public and the medical community alike.