Below are 5 reasons why getting genetically re-tested might make sense for you.
Reason 1: New Genes Included; Tests Keep Improving
Genetic tests done years ago may have missed key genes, included ones no longer considered relevant, or failed to detect multiple variants that could now be identified.
Re-testing can reveal updated, more complete results – including the possibility of having more than one variant that affects your heart.
Click to see examples for Reason 1
- DID YOU KNOW? Experts recently discovered that only 6 out of 26 genes previously linked to ARVC still have strong evidence. Many genes once considered important are no longer thought to cause this disease.
- Why it matters: Re-testing can confirm if your genetic results are still accurate and meaningful for your health decisions.
- Source: James et al., Circulation: Genomic and Precision Medicine, 2021. https://doi.org/10.1161/CIRCGEN.120.003273
- DID YOU KNOW? Genetic testing panels for cardiomyopathy are updated all the time. If your test was done a few years ago, it might have missed important genes that scientists have recently discovered.
- For example: The FLNC gene, associated with serious heart rhythm problems, wasn’t always included in earlier genetic tests. If your test was conducted before November 2020, it might not have checked for FLNC mutations, potentially missing critical information about your heart health.
- Why it matters: Updating your genetic test ensures you have the most accurate and comprehensive information, which can be crucial for your care and your family’s health.
- Sources:
- Mazzarotto F, Tayal U, Buchan RJ, et al. Evidence-Based Assessment of Genes in Dilated Cardiomyopathy. Circulation. 2021;143(6):610-623. doi:10.1161/CIRCULATIONAHA.120.053033 clinicalgenome.org+2ahajournals.org+2ahajournals.org+2
- ClinGen. FLNC – ClinGen Curated Genes. Published November 6, 2020. https://search.clinicalgenome.org/kb/genes/HGNC%3A3756
- DID YOU KNOW? Some people with cardiomyopathy have more than one genetic variant.
- In hypertrophic cardiomyopathy (HCM), about 7% of patients were found to carry multiple rare variants in heart genes. These individuals had a higher risk of serious outcomes, like heart failure or sudden cardiac arrest.
- Why it matters: Older tests may have missed a second variant. Comprehensive or updated testing could reveal additional risk factors—and lead to more tailored care.
- Source: Wang J, et al. Malignant effects of multiple rare variants in sarcomere genes on the prognosis of patients with hypertrophic cardiomyopathy. Eur J Heart Fail. 2014 Sep;16(9):950-7. doi: 10.1002/ejhf.144. Epub 2014 Jul 31. PMID: 25132132.
- DID YOU KNOW? More than one gene can be involved in dilated cardiomyopathy (DCM).
- DCM can be caused by changes in any of 40+ genes, and some people carry multiple variants that interact to cause or worsen disease. These findings highlight the importance of detailed genetic testing—not all cases are caused by a single mutation.
- Why it matters: Retesting with broader panels can help uncover these combinations, offering better insight into your condition and care plan.
- Source: Pugh TJ, et al. Genet Med. 2014;16(8):601–608. https://doi.org/10.1038/gim.2013.204.
- DID YOU KNOW? More than one gene can affect your heart condition—and your future.
- Patients with multiple variants often develop symptoms earlier and may have a more severe form of cardiomyopathy. Identifying these combinations is key to getting the right treatment and making informed decisions for your family.
- Why it matters: Comprehensive, up-to-date testing can reveal the full picture—especially if your first test was years ago or returned unclear results.
- Source: Pugh TJ, et al. Genet Med. 2014;16(8):601–608. https://doi.org/10.1038/gim.2013.204.
Reason 2: Uncertain Results Can Become Clear
Results that were once labeled “uncertain” may now be clearly understood. Over time, these variants can be reclassified as either pathogenic (disease-causing) or benign (harmless), thanks to new research, better data, and expert review.
This means a result that once left you in limbo may now provide real answers—affecting your care, your family’s risk, and your options for treatment or clinical trials.
Studies by experts support repeat testing every 3–5 years, especially if you received a VUS or had no findings at all.
Click to see examples for Reason 2
- DID YOU KNOW? About 1 in 10 genetic test results for hypertrophic cardiomyopathy (HCM) have changed over time. Some results that were unclear before are now understood better—either showing a definite link or proving harmless.
- Why it matters: Retesting can give you clearer answers, helping you and your family plan better.
- Source: Das et al., Genet Med. 2014 Apr;16(4):286-93. doi: 10.1038/gim.2013.138.
- DID YOU KNOW? Almost a third of unclear results for dilated cardiomyopathy (DCM) turned out harmless when tested again later.
- Why it matters: A retest can ease your worries by clarifying what your original test really meant.
- Source: Quiat et al., Journal of the American Heart Association, 2020. https://doi.org/10.1161/JAHA.120.016195
- DID YOU KNOW? Nearly 6 out of 10 genetic results for arrhythmogenic cardiomyopathy (also known as ARVC) changed when experts checked again with new information. For some patients, this even changed their official diagnosis.
- Why it matters: Rechecking your genetic results helps ensure your treatment and diagnosis are based on the newest science
- Source: Costa et al., Circ Genom Precis Med. 2021 Feb;14(1):e003047. doi: 10.1161/CIRCGEN.120.003047
- DID YOU KNOW? More than 7 out of 10 genetic test results for certain heart rhythm disorders (including ARVC) changed when tested again. Many results that once seemed dangerous turned out to be safe.
- Why it matters: Getting an updated test means your medical decisions are based on the latest knowledge, giving you peace of mind.
- Source: Martin, S., Jenewein, T., Geisen, C. et al. “Re-evaluation of variants of uncertain significance in patients with hereditary arrhythmogenic disorders”. BMC Cardiovasc Disord 24, 390 (2024). https://doi.org/10.1186/s12872-024-04065-w
Reason 3: Medical Experts Recommend Regular Re-Testing
Leading medical societies—including the Heart Failure Society of America (HFSA) and the American College of Medical Genetics and Genomics (ACMG)— recommend periodic re-analysis of genetic results, particularly when initial tests returned uncertain findings or were completed several years prior.
As genetic science advances, clinical guidelines emphasize that regular re-testing can uncover new insights, clarify your genetic risks, and inform better medical decisions. Current best practice involves re-evaluating genetic results periodically, especially if considering significant treatment decisions, family risk assessments, or clinical trial participation.
Click to see examples for Reason 3
- DID YOU KNOW? Leading medical societies recommend periodic re-analysis of genetic results for all types of cardiomyopathy (HCM, DCM, ARVC, restrictive).
- Why it matters: Genetic research evolves rapidly—regular re-testing ensures your care aligns with the latest scientific insights, potentially impacting treatment decisions and family screening.
- Sources:
- Hershberger RE, et al. Genetic Evaluation of Cardiomyopathy—A Heart Failure Society of America Practice Guideline. J Card Fail. 2018;24(5):281-302.
- Deignan JL, et al. Points to consider in the reevaluation and reanalysis of genomic test results: a statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2019;21(6):1267-1270.
- DID YOU KNOW? Doctors now recommend periodically reviewing your genetic tests. One study found that when genetic tests were reviewed again after about 3 years, more than 1 in 4 people got important new answers!
- Why it matters: Updating your genetic information can improve treatment decisions, protect your family’s health, and help you access new therapies.
- Source: Fung JL, Yu MHC, Huang S, et al. A three-year follow-up study evaluating clinical utility of exome sequencing and diagnostic potential of reanalysis. NPJ Genomic Medicine. 2020;5:37. https://www.nature.com/articles/s41525-020-00144-x
- DID YOU KNOW? Rechecking your genetic results after a few years can significantly improve your healthcare. In a major study, reanalyzing genetic tests after about 3 years changed medical management for over 70% of patients who received a new diagnosis!
- Why it matters: Your genetic information evolves as research progresses—staying updated ensures your treatment reflects the latest scientific advancement
- Source: Fung JL, Yu MHC, Huang S, et al. A three-year follow-up study evaluating clinical utility of exome sequencing and diagnostic potential of reanalysis. NPJ Genomic Medicine. 2020;5:37. https://www.nature.com/articles/s41525-020-00144-x
- DID YOU KNOW? A recent study found that rechecking genetic test results after about 3 years increased the number of patients getting a clear diagnosis—from 41% to 53%. Even more, 72% of these patients had their medical care improved because of these new insights.
- Why it matters: Genetic science evolves quickly—periodically revisiting your genetic tests can lead to better care and healthier outcomes.
- Source: Fung JL, Yu MHC, Huang S, et al. A three-year follow-up study evaluating clinical utility of exome sequencing and diagnostic potential of reanalysis. NPJ Genomic Medicine. 2020;5:37. https://www.nature.com/articles/s41525-020-00144-x
Reason 4: Only Clinical-Grade Tests Count for Care
Not all genetic tests meet the quality standards required for medical care or clinical research. To be valid for use in treatment decisions, specialist referrals, or joining a clinical trial, your test must be done in a CLIA-certified and often CAP-accredited laboratory.
Tests done through consumer platforms or research-only labs may not meet these standards—even if they report genetic results. If your test wasn’t performed in a clinical-grade lab, you may need to be re-tested to qualify for new therapies or research opportunities.
Many gene therapy and cardiomyopathy clinical trials require results from CLIA/CAP labs to ensure accuracy and patient safety.
Click to see examples for Reason 4
- Did you Know? Not all genetic tests meet the standards required for clinical trials.
- Only tests performed in CLIA-certified and CAP-accredited laboratories are typically accepted for clinical trial enrollment. If your original genetic test wasn’t conducted in such a lab, you might need to be re-tested to qualify for certain trials.
- Why it matters: Ensuring your genetic test meets these standards can potentially open doors to investigational therapies available through clinical research. If you’re considering a clinical trial or gene therapy program, you may need to get re-tested to make sure your results meet eligibility requirements
- Sources:
- Sautter RL, Thomson RB Jr, Rupp ME, et al. Standardization and improvement of laboratory practices through the College of American Pathologists Laboratory Accreditation Program. Arch Pathol Lab Med. 2005;129(10):1296–1303. doi:10.5858/2005-129-1296-SAIOOL
- U.S. Food and Drug Administration. Clinical Laboratory Improvement Amendments (CLIA). Updated October 6, 2023. Accessed June 6, 2025. https://www.fda.gov/medical-devices/ivd-regulatory-assistance/clinical-laboratory-improvement-amendments-clia
Reason 5: Your Updated Results Can Speed New Treatments
Genetic data from real patients is helping scientists develop life-saving treatment – including gene therapies for cardiomyopathy. But for your data to make an impact, it needs to be accurate, up to date, and linked to a confirmed diagnosis.
When you update your genetic test results – especially through a CLIA-certified lab – you’re not only getting better information for your own care, you’re also contributing to research that could benefit others with the same condition.
In fact, the FDA now uses real-world data from patients with genetically confirmed disease to help approve new therapies. Your re-test could be part of the next big breakthrough.
Click to see examples for Reason 5
- DID YOU KNOW? Real-world data from patients like you is helping new treatments get approved.
- For example: The FDA used health information from patient’s with Friedreich’s ataxia to help approve a new treatment called Skyclarys. Now, the same approach is being used in gene therapy trials for cardiomyopathy.
- Why it matters: If you have a confirmed genetic diagnosis, your experience could help researchers develop and approve the next generation of treatments—for you and others like you.
- Sources:
- U.S. Food and Drug Administration. Considerations for the Use of Real-World Data and Real-World Evidence to Support Regulatory Decision-Making for Drug and Biological Products: Guidance for Industry. Silver Spring, MD: U.S. Department of Health and Human Services; August 2023. Accessed June 6, 2025. https://www.fda.gov/media/171667/download
- U.S. Food and Drug Administration. Other Review(s): Review of Natural History Study as Confirmatory Evidence for the Efficacy of Omaveloxolone for Treatment of Friedreich’s Ataxia. NDA 216718. February 27, 2023. https://accessdata.fda.gov
- DID YOU KNOW? Advancements in genetic research rely heavily on data from individuals like you who have undergone genetic testing for cardiomyopathy.
- Why it matters: By updating your genetic information, you contribute to a growing database that researchers can use to identify new therapeutic targets and develop personalized treatments.
- Source: Kim-McManus, O., Gleeson, J.G., Mignon, L. et al. A framework for N-of-1 trials of individualized gene-targeted therapies for genetic diseases. Nat Commun 15, 9802 (2024). https://doi.org/10.1038/s41467-024-54077-5