Genetic Testing
Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiovascular disease. Much is known about its genetics, but a lot is still to be learned.
In genetic testing, a blood or saliva sample is collected to test whether the person has genetic mutations known to be linked to HCM.
We are living in the age of genetics. HCM was first identified as a genetic disorder in the 1990s. The discovery of the gene defects responsible for HCM is a major step toward understanding, in precise terms, the basic cause of HCM. But beyond that, testing is useful for many patients, even in the short term.
This page will direct you to more information about genetics as it relates to HCM and testing.
What are the genes that contribute to HCM?
Most known mutations contributing to HCM affect how an important part of heart muscle cells (called the cardiac sarcomere) works. The sarcomere is the part of the muscle cell that contracts. Most of the HCM-causing mutations cause the muscle cells to contract too much.
Why Consider Genetic Testing in HCM?
Laboratory DNA diagnosis from a blood test is now available commercially. Having results from this blood test may be particularly useful in identifying HCM in some difficult situations, including:
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- Young children and adolescents may not yet show any sign of HCM.
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- It can be challenging for practitioners to distinguish HCM from other diagnoses
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- In athletes, it can be difficult to distinguish HCM from the effects of chronic exercise and training on the heart (i.e., "athlete's heart")
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- Patients with hypertension can cause hypertrophy of the left ventricle.
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- It can be challenging for practitioners to distinguish HCM from other diagnoses
Results from Laboratory DNA diagnosis can allow for careful follow-up for those with a known genetic mutation or freedom from the need for annual cardiac evaluation in relatives without a mutation. But knowledge of a mutation by a particular patient can also be highly emotional, debilitating, and in some ways even worse than the actual diagnosis. Genetic counseling is strongly recommended for family members undergoing genetic screening to prepare them for the results and help interpret the findings.
Getting tested
There are several providers for genetic testing. There are some industry-sponsored testing programs for families that change over time.
Testing is normally covered under insurance.
Invitae Unlock™ program expands timely access to genetic insights for patients who may have a hereditary condition. The program helps to connect individuals to appropriate and timely treatment options, research opportunities, and educational resources. Find out more here.
Admera Health is an advanced molecular diagnostics company focused on personalized medicine and digital health. Admera Health offers CardioGxOneTM, a comprehensive NGS (next generation sequencing) based molecular test for inherited cardiovascular diseases. Co-developed by Admera Health and Health In Code, CardioGxOneTM examines 213 genes for more than 30 categories of cardiovascular diseases, including Cardiomyopathies, Arrhythmias, Congenital Heart Diseases and Marfan Syndrome. With 98,000 individual/38,197 family genetic histories and 75,000 exonic and splicing genetic variants with clinical annotations, CardioGxOneTM offers the biggest proprietary clinical knowledgebase for data interpretation. More than 11,000 tests have been performed with fast TAT of three weeks on average and reports prepared by a team of experts including cardiologists and geneticists specialized in cardiovascular diseases.
For additional information, please visit http://www.admerahealth.com/cardiogxone/
Ambry Genetics, together with its subsidiary Progeny Genetics, is a worldwide leader in hereditary cardiovascular diagnostics and software solutions, offering the industry's most comprehensive genetic services. Our hereditary cardiovascular test menu features tiered, intuitive approaches to testing for hypertrophic cardiomyopathy (HCM) to minimize turnaround time and help control costs. As one of the first labs to introduce clinical next generation sequencing (NGS), we also offer comprehensive cardiovascular panels for inherited arrhythmias, cardiomyopathies, aortic aneurysms/dissections, and familial hypercholesterolemia. Full gene sequencing and gross deletion/duplication analysis are performed for all genes (exceptions may be specified). Our most comprehensive panel, CardioNext, includes 85 genes implicated in inherited cardiomyopathies, arrhythmias, and other cardiovascular conditions. We have a reputation for unparalleled results reporting, sharing data while safeguarding patient privacy, and responsibly applying new technologies. www.ambrygen.com
Blueprint Genetics is a company with strong dedication to genetic diagnostics of hereditary cardiovascular diseases, such as hypertrophic cardiomyopathy (HCM). We provide diagnostics in this field for hundreds of hospitals around the world. We are a Stanford University spin-off founded around proprietary technological innovations that enable high quality genetic diagnostics with faster turn-around-time and lower costs. We are the only company in the world that has our diagnostic platforms based on a unique and novel OS-Seq technology, which was developed by one of our founders at Stanford. This technology was developed to improve clinical genetic diagnostics (Myllykangas et al., 2011. Nature Biotech). One of the main goals for Blueprint Genetics is to maximize quality in diagnostics. To achieve this goal we have built a unique analytic pipeline that is formed by our OS-Seq technology, in-house built bioinformatics with incorporated cardiovascular disease variant and knowledge databases, and clinical interpretation by our team of geneticists and physicians with cardiovascular expertise. Our platforms are well designed and comprehensive for all clinical situations. Our laboratory provides test results in average of 21 days and also provide express service with additional costs with 10 day TAT. Please visit the website for additional information: http://blueprintgenetics.com
GeneDx was founded in founded in 2000 by two scientists from the National Institutes of Health (NIH) to address the needs of patients and clinicians concerned with rare inherited disorders. Currently, GeneDx offers more than 700 genetic tests, ranging from single gene tests to whole exome sequencing. At GeneDx, our technical services are matched by our scientific expertise and customer support. Our growing staff includes more than 100 geneticists and genetic counselors specializing in clinical genetics, molecular genetics, metabolic genetics, and cytogenetics who are just a phone call or email away. GeneDx is in-network provider for a lot of insurance plans. We work with insurance companies on your behalf to get coverage for genetic testing, and offer compassionate care price under our financial assistance program to patients facing financial difficulty.
GeneDx has been offering multi-gene panels for inherited cardiac disorders since 2008. The cardiac tests available at GeneDx are:
* Comprehensive Cardiomyopathy Panel
* Comprehensive Arrhythmia Panel
* Hypertrophic Cardiomyopathy Panel
* Dilated Cardiomyopathy Panel
* Arrhythmogenic Right Ventricular Cardiomyopathy
* Long QT Syndrome Panel
* Brugada Syndrome Panel
* CPVT Panel
* Marfan Syndrome/TAAD Panel
* Noonan Syndrome Panel
* Sudden Cardiac Arrest Panel
For a complete list of Cardiac genetic tests at GeneDx, please visit www.genedx.com/cardiology
Invitae is a genetic information company that seeks to make genetic testing affordable and accessible. Invitae offers more than 30 cardiovascular test panels, including condition-focused panels for hypertrophic cardiomyopathy and a broad, comprehensive cardiomyopathy panel. With Invitae, clinicians have the ability to start with a small, focused hypertrophic cardiomyopathy panel and, if that doesn't identify the answer they need, order the broader comprehensive cardiomyopathy panel within 90 days for no additional charge. Turnaround time is three weeks on average. Billing options include direct commercial insurance, Medicare, and institutional billing, or direct patient pay. Invitae also offers a patient financial assistance program. For full details on Invitae's services, please visit www.invitae.com.
The Laboratory for Molecular Medicine (LMM) is a CLIA-certified molecular diagnostic laboratory, operated by Partners HealthCare Personalized Medicine and led by a group of Harvard Medical School-affiliated faculty. The LMM was the first laboratory to offer a clinically available test for hypertrophic cardiomyopathy (HCM). Since the initial launch in 2007, sequencing-based testing has expanded to become more comprehensive and include additional forms of cardiomyopathy. To date, over 6,000 tests have been performed. Patients can choose from several testing options, including a HCM-focused gene panel for individuals and families with a clear diagnosis of HCM, a comprehensive multi-cardiomyopathy panel for individuals where the clinical presentation is more complex, and whole exome and whole genome sequencing. In addition, known mutation testing is available for individuals who wish to know whether they carry a predisposing cardiomyopathy variant that was previously identified in their family. Regardless of which test is performed, variants identified by the LMM undergo a rigorous assessment to determine their significance. After a decade of cardiomyopathy testing, the LMM has established itself as a leader in this field and is spearheading large national and international efforts to help centralize and share cardiomyopathy variants, standardize their interpretation, and provide guidance on which genes are supported by a sufficient amount of scientific evidence to warrant inclusion in disease-focused gene panels (www.clinicalgenome.org). As a result of these efforts, as well as its tight integration with leading clinical and scientific experts at Harvard Medical School, the LMM is able to apply its deep knowledge to create test reports with detailed variant-level summaries of current knowledge as well as individualized summaries that interpret genetic findings in the context of each individual's clinical features and family history. For more information see LMM
HCMA 6/2021
