CHICAGO – Oct. 20, 2023 – People undergo genetic testing to determine if they may pass a genetic condition to their future children. In doing so, one in nine may also learn they have a gene that raises their own risk for a health issue, such as increased risk for cancer or an inflammatory disease, suggests research being presented at the National Society of Genetic Counselors (NSGC) 42nd Annual Conference.
Carrier screening is genetic testing done on genetic parents for inherited conditions and conducted before or during pregnancy. Results show if they “carry” certain genes and their chances of having a child with a genetic condition. The results also can shed light on a patient’s personal health.
“Patients often undergo carrier screening thinking it will only give them information about genetic risks for children, however, they often learn something related to their own health,” said Lauren Petrarca, MS, CGC, lead author of the study and a genetic counseling manager at Labcorp. “As the number of genes tested in carrier screening panels increases, more genes that have implications for people being tested – including an increased risk for certain cancers – are being included. People can make informed decisions and be better prepared for the range of results they receive by learning about this possiblity before testing.”
The researchers analyzed 1,581 carrier screens that tested postive for one or more of 50 targeted genes collected between July and November 2021. They determined 183 (11.5%) of the patients had a positive result for one or more of the genes that have health implications for the person who is being tested.
The most common conditions researchers identified as risks to the people being tested include:
- Increased risk for autoinflammatory disease (familial Mediterranean fever)
- Sensitivity to certain anesthetic agents (pseudocholinesterase deficiency)
- Toxic response to some chemotherapy drugs (dihydropyrimidine dehydrogenase deficiency)
- Risk for premature ovarian failure or fragile X-associated tremor/ataxia syndrome (Fragile X syndrome)
“Genetic counselors have a critical role in discussing the risks, benefits and limitations of carrier screening with patients,” said Petrarca. “They also play an important role in educating healthcare providers about this issue as the vast majority of patients undergoing carrier screening are not speaking with a genetic counselor before receiving any testing.”
Note to editors: Media interested in viewing study abstracts, interviewing authors and/or attending sessions at the NSGC Annual Conference can contact NSGC’s PR team at 630-344-2009 or NSGCPR@pcipr.com.
About the National Society of Genetic Counselors
NSGC is the leading voice, authority and advocate for the genetic counseling profession. Membership represents more than 5,000 masters-level health professionals, who are committed to ensuring that the public has access to genetic counseling and genetic testing. For more information, visit www.nsgc.org.