Genetic Counseling: When Sci-Fi Doesn’t Feel Like Fiction Anymore

By Jen Obrigewitch, Biology, 2017

“It’s in my genes” is a phrase that is commonly used to describe physical and personality traits that a child shares with his or her parents. But for the general public, there was no proof of which genes were actually present in the genomes of both the child and parent until recently. No human genome in its entirety was even mapped until the conclusion of the Human Genome Project, a task 13 years in the making that concluded in April 2003.

After the project’s completion, rapid advances in the field of genomics led to the identification of many genes that contribute to common diseases such as cancer and diabetes. But even after the completion of the first human genome, each new human genome that was sequenced cost $10 million, a price few could afford.

In 2004, a program was created to award grants to scientists and companies that brought down the price of human sequencing to $10,000. Once the next generation of sequencing technology entered the market in 2007, the price plummeted even more drastically and now sits below $5,000 for a detailed, fully sequenced genome. The goal is to reach $1,000, a number scientists are very close to reaching.

What does this mean for everyday folks who just want to know what their genetic code says about their risk of developing diabetes like Grandma did? Well, for $199 and a test tube full of your saliva, a company called 23andMe will analyze your DNA and output data such as your ancestral lineage, a wellness report about how your DNA affects things such as caffeine consumption effects and lactose intolerance, whether you carry genetic variants for certain diseases, and the likelihood of you and your child having certain physical traits such as brown eyes or curly hair.

But with every new scientific discovery comes hesitation about how having this information might affect your choices. If you find out that you’re a carrier for sickle cell anemia, do you still want children who might develop the disease? If your genetic code says that you’re highly likely to develop cancer, are you going to stop doing anything that might further increase your risk? How do you handle having this information?

A whole new profession has also come out of the new availability of genetic testing: genetic counselors, people whose job it is to walk you through the process of sequencing your genome and interpreting the results. There is even a national society of genetic counselors has been established to supply the increasing demand for such support. Some counselors have medical degrees and transfer from practicing medicine to interpreting genetic results, but recently most active genetic counselors have obtained a Master of Science in genetic counseling from an accredited university program.The counselors are a great resource for helping those electing to have their genome sequenced decide what to do with the information they’ve gained, and how to cope with its implications. The counselor will even help you decide which test results you’d like to see and which you choose to keep veiled. As more tests become commonplace for diseases such as Huntington’s and Alzheimer’s, these counselors are trained on how to handle explaining these test results and ensuring they are understood correctly.

The development of full human genome sequencing and its increasing availability to common people has also led to ethical debates about whether it is right for knowledge of your or your fetus’s genetic code to alter your lifestyle decisions. If you were planning on having children until you found out that there was a chance that child would develop Huntington’s disease, would you still have children? If in the early stages of pregnancy you found out there was a high chance of your child being born with a physical or mental defect, would you choose to abort the fetus? Should parents be able to select what eye or hair color their children will likely have, as if it were a science fiction movie? Knowledge comes with responsibility, and when new areas of knowledge are being exposed, lines can seem blurry. With the steadily increasing knowledge and accessibility of genetic counselors, the interpretation of the new information can be monitored so that a situation similar to the plot of a science fiction movie does not become reality.