This clinical pearl comes from Brendan and Demetria Tennefoss DNPs who recently collaborated with Elite NP on our most recent course The Clinical Genetics and Genetic Screening Course. Enjoy:
Did you know that some genetic mutations are more common than others? Here are a few of the most well-known mutations and what they can mean for your patient’s health:
BRCA1/2: These mutations are linked to an increased risk of breast, ovarian, and other types of cancer. If you have a family history of these cancers, it may be worth getting tested.
MLH1, MSH2: MLH1: This gene provides instructions for making a protein that helps repair errors in DNA replication. Mutations in MLH1 are responsible for about 50% of cases of Lynch syndrome or hereditary nonpolyposis colorectal cancer.
MSH2: This gene produces a protein that is involved in the repair of DNA mismatches. Mutations in MSH2 are responsible for about 40% of cases of Lynch syndrome.
MTHFR: This mutation can impact the body’s ability to process homocysteine, which can increase the risk of heart disease and stroke. It may also be associated with an increased risk of birth defects.
MTRR: Another gene involved in processing homocysteine, mutations in MTRR can also increase the risk of heart disease and stroke.
COMT: This gene plays a role in breaking down catecholamines that affect mood, cognition, and behavior. Mutations in COMT can impact mental health.
FTO: This is among the most associated alleles with obesity. It is involved in regulating body weight and energy metabolism. Variations in the FTO gene have been associated with an increased risk of obesity and other related health problems.
Other mutations are rare: LEPR is a gene associated with obesity when mutations arise. Typically observed early in life, the condition is rare, but the resultant leptin receptor deficiency leads to hyperphagia and severe obesity.
Cascade testing can be particularly important for inherited conditions such as Lynch syndrome or hereditary breast and ovarian cancer syndrome, where identifying at-risk family members can help guide screening and prevention efforts. It can also be an effective way to identify previously undiagnosed individuals who may be at risk for a genetic condition, which then you can counsel them on. A nurse practitioner can help explain the benefits and limitations of testing, as well as provide guidance on managing the emotional and practical implications of a positive test result, including recommendations on lifestyle change to help reduce the risk of disease!
If you are not doing genetic testing in your practice as a screening tool and to help optimize your patient’s health, then seriously consider this as it can be eye opening for many! Check out the recently released Genetic Screening and Genetic Testing Course where we cover everything you need to know to get started today!
