direct-to-consumer genetic testing

At-home genetic testing, also known as direct-to-consumer genetic testing, is a type of genetic testing that is advertised and can be purchased by the public. This type of testing is very different from the type of genetic testing that is provided by a genetics professional at a health care center. These types of tests are often promoted online or advertised on TV (such as 23andMe® or Ancestry®).

Many at-home genetic tests use limited information to make predictions about physical traits, health risks and ancestry.  While these types of tests may be fun to pursue and can lead to an interest in genetics, it is important to understand that they are not comprehensive tests and can potentially be inaccurate or misleading.

What are the Limitations of At-Home Genetic Testing?

  • At-home testing is limited to a handful of genes and only a few major variants for each of those genes. For example, many direct-to-consumer tests of BRCA1 and BRCA2 only assess for a few different genetic variants. However, there are over 1,000 mutations (also known as variants) that exist for BRCA1 and BRCA2 genes. Furthermore, comprehensive testing of risk for breast and ovarian cancer may warrant testing of more than 21 different genes.
  • Testing may be inaccurate and does not provide conclusive results.
  • There are many other factors that influence risk for disease or cancer that are not considered with an at-home genetic test. Other factors affecting risk may include age, sex, diet, exercise, race, disease history and family history.
  • At-home testing may provide unexpected information that may be anxiety provoking.
  • There is currently little oversight or regulation of at-home genetic testing.

Due to these limitations, if you are considering genetic testing, it is recommended to make an appointment for genetic counseling and testing at a health care center.

What is Discussed at a Genetic Counseling Visit?

During a genetic counseling visit, you and your provider may discuss:

  • Personal and family history
  • Risk for hereditary syndromes
  • Basic concepts of genetics and inheritance
  • Benefits and limitations of testing
  • Management recommendations and guidelines for screening
  • Reproductive implications and how to discuss potential results with family
  • Social, financial and legal implications, including the Genetic Information Nondiscrimination Act
  • Potential referrals to other medical specialties or clinics, such as the High Risk Breast Clinic at UofL Health – Brown Cancer Center

What Happens if My Testing Comes Back Positive?

If genetic testing reveals a mutation, also known as a pathogenic variant, a patient will be scheduled for a post-test genetic counseling visit. At this visit a patient can expect the following to occur:

  • Interpret and discuss genetic testing results
  • Discuss disease or cancer risk associated with findings
  • Discuss management and screening recommendations
  • Formulate a plan for disclosing results to family members
  • Arrange testing for family members who would like to pursue testing
  • Receive referrals to other health care providers who may be needed, such as a breast surgeon, gastroenterologist or fertility specialist

To make an appointment for genetic testing with UofL Health – Brown Cancer Center, call 502-562-HOPE (4673).

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Article by: Meredith Haedtler, APRN

Meredith Haedtler, APRN, started her career as a nurse at UofL Health – UofL Hospital on the inpatient oncology unit (6 South) where she worked for five years. While working inpatient, she completed the family nurse practitioner program at Bellarmine University and obtained her master of science in nursing. At UofL Health, Meredith is a medical oncology nurse practitioner who has a certificate in genetic cancer risk assessment. She sees patients at UofL Health – Brown Cancer Center in its downtown and UofL Health – Medical Center Northeast locations.

All posts by Meredith Haedtler, APRN
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