In the world of modern medicine, genetic testing has become an increasingly important tool for clinicians and researchers. With the advancements in genomics, we now have the ability to read and interpret the genome, which provides us with a wealth of information about an individual’s health. But what happens when we discover more than what we were initially looking for?

Secondary findings from genetic testing are additional pieces of information that are discovered while analyzing genetic sequences. These findings go beyond the primary reason for testing and can reveal important insights into a person’s health. They can uncover potential signs of genetic conditions that the individual may not have been aware of.

One of the key challenges in working with secondary findings is determining their significance and how to further investigate them. The American College of Medical Genetics and Genomics (ACMG) has developed guidelines for reporting and interpreting these findings. These guidelines recommend that certain genomic regions or genes be analyzed for specific conditions, regardless of the initial reason for testing.

Secondary findings can provide individuals and their healthcare providers with valuable information that can help guide further care and treatment. They can also lead to the identification of underlying genetic conditions that may have gone undiagnosed. This information can be particularly useful for individuals with a family history of certain diseases or those who may be at a higher risk based on their genetic makeup.

In conclusion, secondary findings from genetic testing offer a deeper level of understanding about an individual’s genetic makeup and potential health risks. They provide a more comprehensive picture of a person’s genetic profile, allowing clinicians to make more informed decisions about their care. As the field of genetics continues to advance, secondary findings will become an increasingly important topic in genomics research.

Scientific journal articles for further reading

Here are some scientific journal articles for further reading on the topic of secondary findings from genetic testing:

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• “ACMG-Recommended Sequence Variant Interpretation Guidelines: Recommendations for the Interpretation of Sequence Variants in Clinical Diagnostic Laboratories” – This article by Kalia et al. provides guidelines for the interpretation of sequence variants identified in clinical diagnostic laboratories. It offers valuable information for clinicians and geneticists on how to interpret secondary findings from genetic testing.
• “Secondary Findings from Clinical Genomic Sequencing: Prevalence, Patient Perspectives, Family Impact, and Health-Care Costs from a Population-Based Study” – In this study, Richards et al. examine the prevalence of secondary findings in clinical genomic sequencing, as well as the perspectives of patients and the impact on their families. The article also discusses the healthcare costs associated with detecting and managing these secondary findings.
• “Working Group Recommendations for Reporting Secondary Findings in Clinical Exome and Genome Sequencing, 2016 Update” – Bale et al. provide updated recommendations for reporting secondary findings in clinical exome and genome sequencing. The article discusses the challenges and opportunities of reporting secondary findings and offers guidance for clinicians in managing and communicating this information to patients.
• “Genomic Sequencing in Clinical Practice: Applications, Challenges, and Opportunities” – This chapter by Herman and Genet in the book “Genomics and Health in the Developing World” explores the applications, challenges, and opportunities of genomic sequencing in clinical practice. It also discusses the implications of secondary findings and their impact on clinical decision making.

These articles will provide you with more in-depth knowledge about the secondary findings from genetic testing, their interpretation, and their impact on patient care.

Learn more about secondary genetic findings

Genomic testing has become an integral part of healthcare, providing valuable information about an individual’s genetic makeup and potential risks for certain health conditions. While primary findings, which refer to the specific genetic conditions or variants that were originally tested for, are the main focus of genetic testing, secondary findings offer additional insights into a person’s health.

Secondary findings, also known as incidental or additional findings, are unexpected discoveries of genetic variants unrelated to the initial reason for testing. These findings may highlight a person’s risk for other genetic conditions that can have a significant impact on their health.

Why are secondary findings important?

Secondary findings are important because they can uncover potential health risks that may not have been apparent otherwise. They can provide additional information about a person’s genetic makeup and help clinicians develop a more comprehensive understanding of their health. Identifying these secondary findings may allow for earlier interventions and personalized care that can improve health outcomes.

How are secondary findings identified?

Secondary findings are typically identified through comprehensive genomic testing. This type of testing involves sequencing a person’s entire genome or specific regions of interest. The results of the testing are then analyzed to identify any genetic variants associated with specific health conditions.

It is important to note that not all genetic testing includes the analysis of secondary findings. Some tests are designed to focus only on specific genes or conditions, and therefore may not provide information about secondary findings.

What kind of information can secondary findings provide?

Secondary findings can provide a range of information about a person’s genetic health risks. They may identify genetic variants associated with conditions such as hereditary cancer syndromes, cardiovascular diseases, or neurological disorders. Understanding these risks can help individuals and their healthcare providers make more informed decisions about their medical care.

How should clinicians handle secondary findings?

The American College of Medical Genetics and Genomics (ACMG) has established guidelines for how clinicians should handle secondary findings. These guidelines recommend that an individual’s consent be obtained before testing for secondary findings. Clinicians should also discuss the potential benefits, risks, and implications of these findings with their patients to ensure informed decision-making.

Further reading

• The ACMG-Recommended Specification for Secondary Findings in Clinical Exome and Genome Sequencing: A Policy Statement of the American College of Medical Genetics and Genomics – This article published in the journal ‘Genetics in Medicine’ provides the official ACMG policy statement on secondary findings in genomic testing. It offers detailed information about the recommended approach to handling and reporting these findings.

• Richards, S., Aziz, N., Bale, S., Bick, D., Das, S., Gastier-Foster, J., Grody, W.W., Hegde, M., Lyon, E., Spector, E., et al. (2015). – This chapter from the book ‘Genetic Test Evaluation: Chapter 8 – Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology’. It provides detailed information about the interpretation and reporting of variants, including secondary findings, in genetic testing.

Topics in the Genetic Testing chapter

Secondary Findings from Genetic Testing: ACMG-Recommended Genes and Conditions

Secondary findings refer to genetic information discovered during testing that is not directly related to the primary reason for performing the testing. The American College of Medical Genetics and Genomics (ACMG) has compiled a list of genes and conditions that should be reported as secondary findings. These conditions include:

• Lynch syndrome
• Hereditary breast and ovarian cancer syndrome
• Familial hypercholesterolemia
• Li-Fraumeni syndrome
• And many more

These secondary findings provide valuable health information about an individual and are considered clinically actionable, which means that appropriate medical care or interventions can be taken to mitigate the risks associated with these conditions.

ACMG-Recommended Scientific Tests for Secondary Findings

ACMG has recommended a set of scientific tests that can be performed to identify secondary findings. These tests involve sequencing the DNA of an individual to identify any variations or mutations in the genes associated with the ACMG-recommended conditions.

The tests typically involve targeted sequencing or whole-genome sequencing, which allow for the identification of genetic variations in specific gene sequences or throughout the entire genome, respectively.

Further Reading and Articles

Clinicians and genetics professionals interested in learning more about secondary findings from genetic testing can refer to the following articles:

• Richards S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405-24.
• Kalia SS, et al. Recommendations for reporting secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. Genet Med. 2017;19(2):249-255.
• Herman GE, et al. Consensus statement on comprehensive phenotyping for genetic and genomic research. Genet Med. 2018;20(9):987-993.

These articles provide in-depth information on the current guidelines and best practices for reporting and interpreting secondary findings from genetic testing.