Living in the Age of Genomics

Genetic testing, which has expanded in recent years with advances in technology and the development of consumer products, is on a path to widespread acceptance among Americans, according to a new study. The popularity of ancestry research and rising numbers of clinical referrals are helping drive that trend.

“While the portfolio of accurate, affordable tests has expanded in recent years, growth in awareness among both individuals and the medical community has been incremental. Our study demonstrates that genetic testing may finally be reaching mainstream acceptance.” said study author Sukh Makhnoon with UT Southwestern in Dallas, Texas. Using data from the 2022 Health Information National Trends Survey, the researchers found that 81% of Americans are aware of genetic testing and 40% have undergone at least one test, up from 75% awareness and 19% usage in 2020.

Among 6,252 respondents, awareness was highest for ancestry testing (72%), followed by testing for specific diseases (55%), prenatal genetic carrier testing (37%), and personal trait testing (25%). Of the 4,403 respondents who answered the question on whether they had used a genetic test, ancestry tests (23%) were most common, ahead of specific disease risk (16%), prenatal carrier (8%), and personal trait (6%).

Researchers also found that racial and ethnic disparities in the use of genetic tests are narrowing, further suggesting improved acceptance. Black (37%) and Asian (29%) respondents were almost as likely as white participants (39%) to have undergone at least one genetic test. The involvement of genetic counselors, however, remains limited. Only 10% of all clinical genetic tests were ordered by genetic counselors, who are trained to provide relevant information and support to patients. Two-thirds of disease tests, which require the involvement of a healthcare professional, were ordered by physicians other than genetic counselors.

“While those providers obviously recognize the benefits of testing, they may not have the training to successfully help patients understand and adapt to the medical or psychosocial consequences of genetic information,” said Dr. Makhnoon. “Our findings suggest that the medical community should emphasize the importance of continued genetic education for health care providers to strengthen their skills in supporting patients before and after testing.”

The study builds on the growing body of research related to public health genetics and its benefits in identifying disease risk. “This is a fairly new field of research, but one that is growing rapidly in importance due to technological advancements and the possibility of unlocking new pathways to patient care,” Dr. Makhnoon said. “We are committed to continuing our efforts to enhance the understanding of genetics through future research.”

In a separate study, researchers found that a specialized chatbot can effectively assist patients in deciding whether to pursue genetic testing, offering an alternative to traditional genetic counseling. Known as the BRIDGE trial, researchers found that using an algorithm may better identify adults at higher risk for inherited cancer syndromes based on their self-reported family health histories.

The results of the BRIDGE (Broadening the Reach, Impact, and Delivery of Genetic Services) trial could help expand patient access to genetic care. It is theorized that 10% of all cancers may be caused by inherited genetic changes. “There’s a substantial number of people who have an inherited cancer syndrome. The vast majority don’t know it. As we get better at recognizing people who are in need of genetic testing, we were very interested as a team in coming up with sustainable and scalable ways to actually provide those types of genetic services.” said researcher Kimberly Kaphingst with Huntsman Cancer Institute in Salt Lake City, Utah.

The current standard of care model for genetic testing involves a two-appointment process. Patients first meet with a genetic counselor for a pre-test appointment where they discuss their family history, as well as the risks, benefits, and limitations of testing. If patients choose to proceed with testing, they schedule a second appointment to analyze the results with the counselor.

Kaphingst and her colleagues divided more than 3,000 Utah and New York participants into two groups (one pursuing the standard two-appointment model, and the other engaging with a chatbot designed and scripted to provide genetics education instead of having a pre-test appointment with a genetic counselor). Participants in the chatbot group were sent a message through MyChart, an online patient health portal, recommending genetic services and providing a link to launch a chatbot. Next, they received information about genetic testing and were able to ask questions to help them decide if they should proceed with testing.

The researchers found outcomes between the two groups were equally likely to complete genetic testing, demonstrating that a chatbot is a viable alternative to the traditional model. “Our goal wasn't to see if the chatbot was better or worse. The question was, is a chatbot another model that we can use to offer genetic services to patients and have similar outcomes,” said Kaphingst. “For a lot of people, the chatbot model provided enough information. The chatbot can take some of the burden off genetic counselors and help provide genetic testing to more patients who are eligible.”

Researcher and genetic counselor Rachelle Chambers with NYU Langone Perlmutter Cancer Center, New York, said the promising results of this equivalency trial are crucial as knowledge of and demand for genetic testing is on the rise. “Twenty years ago, we were testing for a handful of cancer-related genes, like BRAC1 and BRAC2, which can lead to an increased risk for breast and ovarian cancer. Now, we might analyze 100 different genes linked to cancers. From my perspective as a genetic counselor, there are not enough genetic specialists to meet the increased demand of patients,” said Rachelle Chambers at NYU Langone Perlmutter Cancer Center in New York.

Individuals who know they are genetically more likely to develop cancer can be proactive in prevention, through increased screenings, taking medications, pursuing surgery to reduce risk, and changing personal behaviors.

John Schieszer is an award-winning national journalist and radio and podcast broadcaster of The Medical Minute. He can be reached at medicalminutes@gmail.com