As genetic testing becomes increasingly accessible to the public through direct-to-consumer and network-based research initiatives, it is extraordinarily pertinent to understand how the public engages with their results. Maureen Smith, MS, CGC, and her colleagues at Northwestern University recently published a qualitative study examining how research participants comprehend negative genetic testing results and integrate this information into their daily life.
Individuals were assessed for cancer and cardiovascular risks with a genetic test including 109 genes and 1,400 SNPs as determined by the electronic Medical Records and Genomics (eMERGE) Network.
“We were very interested in the 97-98% of our participants who would receive a negative or uninformative result and the concerns that have been raised regarding over-interpretation of what a negative result might mean and its effect on future screening behaviors,” says Smith.
Negative results were returned with printed resources and directions to the study webpage to participants by mail.
Through semi-structured interviews, study participants felt there was a great deal of personal value and utility in negative genetic testing results.
“Genetic information can be powerful to people for many different reasons,” said Smith.
Some individuals expressed misconceptions about testing, suggesting that perhaps their genetic information may change over time.
“Though our population had high education levels, many did not understand genetic testing,” she said. However, the majority clearly grasped the concept of residual risk. “[T]hey still recognized the need to continue regular health screenings,” relates Smith, “a main concern… about nondiagnostic testing.”
Loking forward, Smith highlights the value of genetic counselors in working with the broader public as research, consumer-intiated, and population-based testing efforts continue.
“I believe it is important for genetic counselors to engage with all people who may have or consider genetic testing,” she says.
Smith notes that as genetic medicine moves to include lower risk populations and the general public, genetic counselors should be poised to integrate into these testing structures.
"Genetic counselors often fail to recognize… that we have much to offer as co-investigators on projects and in conducting our own research as well."
“We can design programs and information that reflect the educational and psychosocial needs of the public,” Smith states.
Now retired and working one day a week, Smith urges genetic counselors to trust their expertise when it comes to research.
“Genetic counselors often fail to recognize… that we have much to offer as co-investigators on projects and in conducting our own research as well,” she said.
Smith acknowledges that involvement in publication and research is “never an easy process,” but advises that genetic counselors block writing time on their schedules and “set goals and timelines on what [they] can accomplish with each section of [a] manuscript.” She encourages others to consider the benefits of research in providing a unique perspective on the delivery of clinical care and the genetic counseling process.
Her final piece of advice after 33 years as a practicing genetic counselor and 15 years of research experience is simply… dive in!
“If I were to go back and do this again, I would suggest not hesitating to help colleagues on a research project [and] reaching out to colleagues who are conducting research that is interesting to you,” she says.