Genetic testing moving into the mainstream, study finds

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 in the U.S., researchers at UT Southwestern Medical Center found. The popularity of ancestry research and rising numbers of clinical referrals are helping drive that trend, according to the study published in Frontiers in Genetics.

“Genetic testing is an increasingly valuable tool for identifying a wide range of medical risks, including cancer, heart disease, neurogenetic conditions, prenatal diagnoses, and more,” said study leader Sukh Makhnoon, Ph.D., Assistant Professor in the Peter O’Donnell Jr. School of Public Health and the Harold C. Simmons Comprehensive Cancer Center at UT Southwestern.

“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.”

Using data from the 2022 Health Information National Trends Survey, UTSW 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 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. For example, 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 health care 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,” Dr. Makhnoon said.

“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—and better manage ongoing care once results are known.”

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 enhancing the understanding of genetics through future research.”

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 in the U.S., researchers at UT Southwestern Medical Center found. The popularity of ancestry research and rising numbers of clinical referrals are helping drive that trend, according to the study published in Frontiers in Genetics.

“Genetic testing is an increasingly valuable tool for identifying a wide range of medical risks, including cancer, heart disease, neurogenetic conditions, prenatal diagnoses, and more,” said study leader Sukh Makhnoon, Ph.D., Assistant Professor in the Peter O’Donnell Jr. School of Public Health and the Harold C. Simmons Comprehensive Cancer Center at UT Southwestern.

“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.”

Using data from the 2022 Health Information National Trends Survey, UTSW 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 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. For example, 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 health care 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,” Dr. Makhnoon said.

“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—and better manage ongoing care once results are known.”

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 enhancing the understanding of genetics through future research.”