It’s safe to say it’s not going away. But how will we manage it?
Most people probably do not realize just how far genetic testing in medicine has come or where it will go from here. I’m not certain on the latter point myself. But we are moving toward a society in which we can see into our genetic futures.
In theory, this is a miraculous time and a wonderful place for medicine to be. In reality, it will likely bring up some thorny ethical issues. For example, will people be discriminated against as a result of their genetic test results? Or will fetuses be aborted because of their genetic makeup?
Many people are frightened with such prospects, often borne out of a distrust of the unknown or the idea that scientists can’t be trusted and should leave nature alone. Personally, I’m glad we don’t leave nature alone, and I believe we are reaching a place where these potential issues can be solved. We must, because genetic testing is one of those genies that you aren’t going to get back in the bottle.
Like most medical advancements, genetic testing has taken a huge leap in recent years. Genetic testing provides answers to all sorts of genetic conditions and can be done at many different stages through life.
Current state of genetic testing
Prenatal genetic testing is recommended to parents in order to provide them with a look into the genetics of their unborn children. Some genetic diseases, such as sickle cell anemia, are more prevalent in certain ethnic groups. For example, African-Americans are more prone to sickle cell disease, so they would be a priority to have sickle cell genetic testing done, rather than testing for another genetic disease.
On the other hand, there are some genetic diseases that are common among all ethnicities and should be tested. Cystic fibrosis is a good example, and in fact, testing for it is now recommended for all ethnic groups.
Genetic cancer syndromes have even more to do with family history than prenatal genetic testing does. About 5-10 percent of all cancers are caused by genetic mutations. For instance, BRCA gene manipulations can lead to cancer.
Women with the BRCA1 gene mutation possess a 40 percent lifetime risk of contracting gynecological cancer and BRCA2 mutations’ risk is around 20 percent. This is up from the general population’s numbers where about 1 in 10 American women develop breast cancer and 1.5 percent will get ovarian cancer.
The good news is that the BRCA gene mutations are not very common, only effecting about 1 in 500 women. Both men and women can possess a BRCA gene mutation, and children of parents who have a BRCA gene mutation have a 50 percent chance of inheriting the mutation.
Depending on the carrier rate in a family with the BRCA1 or BRCA2 genetic mutations predisposing them to cancers, it may be justifiable to test for those. If two or three members of a family have a high risk (50 percent or higher) of ovarian or breast cancer, the likelihood is high that this may be passed down. In this situation, I would definitely recommend genetic testing as a means to plan ahead.
Some ethnic groups are also at a higher rate of showing the BRCA genetic mutation. For example, 1 out of every 40 Ashkenazi Jews carries the one of the BRCA gene mutations, and members of this ethnic group could benefit from genetic testing.
If I see a patient with a very early occurrence of cancer, say in her early 30s, we can do genetic testing to determine the cause of her cancer. Even though we already know she has cancer, we will still screen the for genetic mutations so that she can pass this knowledge and information on to her potential children and grandchildren. They can focus on those specific genes, saving them time and money when it comes to tests.
If an individual is aware of a genetic mutation he or she can elect a prophylactic surgery that may prevent other expensive and time consuming options, not to mention overall health risks. For example, if a patient knows that she has the BRCA gene with an 80 percent or higher risk of developing breast or ovarian cancer, she can choose to have a mastectomy or laparoscopy to remove those organs in order to prevent the likelihood of cancer. This is what Angelina Jolie did, electing to have a double mastectomy and removing her fallopian tubes and ovaries based on her genetic testing results.
I like to think about it like this. There was a time when diseases like ovarian cancer happened unexpectedly and without time to prepare. Nowadays, women with a family history of these diseases are able to undergo genetic tests to see if they carry the cancer-causing genetic mutation, BRCA. This gives them the option to make their own decisions on how to handle their results before potentially coming face-to-face with the “Big C.”
The future of genetic testing includes a dynamic ethical dilemma
Money. We can screen for numerous genetic mutations, but as of now they are very cost prohibitive. For example, it is not financially feasible to test everyone for BRCA1 or BRCA2 mutations or Lynch syndrome the way cystic fibrosis is tested. A BRCA screening can end up costing a couple thousand dollars if the patient has to cover the test out-of-pocket.
Down the road, I foresee panels of common genetic tests becoming more available and hopefully less expensive. After all, we already saw it happen once with cystic fibrosis. At one time, cystic fibrosis tests were very expensive and rarely used. Now these test are significantly less expensive and recommended for all Caucasian people and even families with mixed races.
Discrimination. As healthcare stands currently, it is illegal to discriminate against a person who has a predisposed genetic mutation. However, the potential shift in healthcare regulations could easily change this.
The mad scientist. This topic resembles the eugenics debate of the late 19th and early 20th centuries, in which scientists (and others) proposed improving the genetic quality of the human population through selective breeding and even sterilization. Genetic testing returns us to the debate in which science attempts to improve or control the human race by deciding which hereditary qualities and genetic traits should (or should not) be carried out for future generations.
To which I say, who are we to decide what the genetic diversity of the population is or should be? My take is that when we reach the point where we are able to test for everyone, we can and should. However, it presents a very ethical dilemma.
As genetic testing improves – and it is improving while also branching out into new genetic editing techniques – its potential in healthcare will probably be astounding. In a good way. I am most encouraged about the promise it holds for cancer research and the elusive cure.