Secondary Findings

[INTRO SLIDE]

SECONDARY FINDINGS. Helping you understand the science behind your patients' care. Mikayla Jennings, MS, CGC. Presented by [Shriners Children's logo, Greenwood Genetic Center logo]

Hello, my name is Mikayla Jennings, and I am a clinical genetic counselor with the Greenwood Genetic Center. If your provider has recommended whole genome sequencing for your child, they will also ask if you would like to include additional information called secondary findings. I am here today to provide you with more information about secondary findings in order for you to decide if this is information that you would like to be reported on the test.

Secondary findings are changes in genes that are not related or not thought to be related to your child’s concerns; however, they may have implications for your child’s health in the future. The American College of Medical Genetics and Genomics (ACMG) recommends that all laboratories performing exome or genome sequencing report pathogenic or harmful variants identified in a specific set of genes. These genes are specifically chosen because they are considered medically actionable or important for your child’s health. For example, some of the genes on the list have been associated with an increased risk for cancer or heart problems. We consider a condition medically actionable if there is something we can do to minimize a risk or catch the condition early, such as taking a preventative medicine or screening at a younger age than the general population. When considering the option to find out about a genetic predisposition to a condition, it is important to be aware of the potential implications.

There is a law called the Genetic Information Nondiscrimination Act (GINA). This law provides federal protection from genetic discrimination in regards to health insurance and employment. GINA prevents health insurance companies from using genetic information when making decisions regarding eligibility or premiums. In addition, this law also protects against genetic discrimination by most employers. GINA does not apply to government employees, members of the military, or to employers with fewer than 15 employees. The other main limitation of GINA is that the law does not cover life insurance, long-term care insurance, or disability insurance. Additionally, GINA does not protect an individual if they already have symptoms of the condition; it only protects an individual that has a genetic predisposition to a condition.

Given this information, it is up to you whether or not you would like the secondary findings to be reported for your child. If you are also providing a sample for the testing, it is important to know if the laboratory will be reporting secondary findings for you and your child or if they are just reporting this information for your child, as this is dependent on the laboratory. Please reach out to your provider at Shriners Children’s Hospital if you have any questions.

[SLIDE 1]

Secondary Findings
A DNA double helix illustration showing positions of “primary” and “secondary” genetic findings.

• A long DNA double helix stretches across the image in multicolored base‑pair segments.
• A square box on the left section highlights a primary finding, described as:
  • “Genetic change related to patient’s current condition.”
• A square box on the right section highlights a secondary finding, described as:
  • “Medically important genetic changes, but not related to the patient’s current condition.”
• Below this are examples:
  • Cancer predisposition
  • Heart conditions
• Title: “Secondary Findings.”
• Language at bottom of slide: It is up to you whether you would like our lab to report secondary findings.

[SLIDE 7]

Brought to you in partnership by [Shriners Children's logo] [Greenwood Genetic Center logo]