Genetic testing involves analyzing a person’s DNA to identify changes in genes, chromosomes, or proteins. While often performed to diagnose a specific condition or determine a person’s risk for a particular disease, these tests can sometimes uncover information beyond the initial reason for testing. This unexpected information, distinct from the primary findings, can offer insights into an individual’s broader health landscape.
Defining Secondary Findings in Genetic Testing
Secondary findings, sometimes called incidental findings, refer to genetic test results that reveal information about gene changes unrelated to the original reason for ordering the test. These findings differ from “primary findings,” which are the genetic variants directly linked to the patient’s symptoms or the medical question prompting the test. For instance, a test ordered to investigate developmental delays in a child might unexpectedly reveal a genetic predisposition to a type of adult-onset cancer.
Secondary findings can have substantial health implications, informing individuals about risks for conditions they may not currently exhibit symptoms for but could develop later. Identifying these genetic changes can lead to early awareness and proactive health management, influencing medical decisions and care strategies.
Conditions Included in Secondary Findings
Not all genetic variants discovered incidentally are reported as secondary findings. The American College of Medical Genetics and Genomics (ACMG) establishes guidelines for which findings are considered actionable and should be returned to patients. The ACMG maintains a list of genes, often called the ACMG Secondary Findings list, for which pathogenic or likely pathogenic variants are recommended for reporting. As of 2023, this list includes 81 genes.
The criteria for including conditions on the ACMG list focus on several factors, including the potential health impact, the likelihood of developing the associated health concern, and the availability of effective screening or treatment options. Conditions on this list are highly penetrant, meaning individuals with the genetic variant have a high probability of developing the associated condition. These conditions are also considered medically actionable, indicating that there are established interventions or management strategies that can mitigate the onset or severity of the disease. Examples include predispositions to certain cancers (e.g., hereditary breast and ovarian cancer linked to BRCA1 and BRCA2 genes), various cardiovascular conditions (e.g., familial hypercholesterolemia), and inborn errors of metabolism.
Receiving and Acting on Secondary Findings
When a secondary finding is identified during genetic testing, the process of communicating these results to the patient is carefully managed. Typically, these findings are communicated by a genetic counselor or a physician. This ensures that the complex information is explained clearly and comprehensively, allowing the patient to understand the implications of the finding.
Following communication, several next steps are recommended. These may include confirmatory testing to verify the initial finding. Additional medical evaluations, such as specialized screenings or imaging studies, are often advised to assess the patient’s health status. These evaluations can lead to preventative or management strategies, including increased surveillance, lifestyle modifications, or specific medical treatments. Identifying these findings can contribute to early detection and intervention for serious conditions, potentially improving long-term health outcomes.
Personal Choice and Ethical Considerations
Individuals undergoing genetic testing have the right to decide whether they wish to receive information about secondary findings. This choice, often called “opting out,” allows patients to decline the analysis or reporting of these findings. There are various personal reasons why someone might choose to opt out. Some individuals may prefer not to know about potential future health risks, particularly if the condition cannot be prevented or treated, to avoid anxiety or psychological distress. Concerns about the potential impact on insurance or employment, although protections exist, can also influence this decision.
The ethical considerations surrounding the return of secondary findings involve balancing patient autonomy with the potential for receiving life-saving or health-altering information. While some argue for the routine disclosure of actionable findings due to their potential benefit, others emphasize the patient’s right to control their own health information and decide what they want to know. The psychological and familial implications of receiving such information are also considered. A secondary finding may not only affect the individual tested but also have implications for their biological relatives, prompting discussions about sharing genetic information within families.