Wondering how to best utilize genetic testing in your cardiology practice?
Professional societies have long recommended genetic testing in the care of individuals and families with inherited cardiovascular diseases.1-5 Recognizing the obstacles to integrating genetic testing into every cardiology practice, recently published articles highlight why, when, and how to offer genetic testing appropriately and effectively in your practice.6,7
To provide you with extra support, we’ve worked out exactly how Invitae can help during each step identified in peer-reviewed studies.
|Steps to incorporate genetic testing||How Invitae can help|
|1. Obtain a comprehensive family history||1. Use our Family History Tool’s patient questionnaire to automatically build a family history pedigree.|
|2. Identify patients and families appropriate for genetic testing||2. Invitae’s board-certified genetic counselors are available Monday through Friday, 5 am to 5 pm to discuss specific cases.|
|3. Select the right genetic test for your patient||3. Our comprehensive test menu offers pre-curated, disease-specific panels for patients with a clear clinical diagnosis as well as broader panels for patients with a more complex personal or family history.|
|4. Provide pre-test genetic counseling to your patient||4. Not quite comfortable providing complete genetic counseling? Our Genetic Counseling Services are available to consult with patients.|
|5. Review and interpret the results||5. Receive results directly through our HIPAA-compliant portal. Have a question about the result? Our Clinical Consult Service is here to aid in interpreting results.|
|6. Discuss the results with your patient and provide post-test genetic counseling||6. Our genetic counselors are available to consult with patients.|
|7. Provide resources that patients can reference and share with their relatives||7. Our Genetics Resource Hub has a wealth of resources including family letter templates, printable guides, and short videos to answer your patients’ questions.|
|8. Suggest medical management for at-risk relatives, which may include genetic testing||8. If we find that your patient has a pathogenic or likely pathogenic variant, we will test all first-degree family members for that same variant according to our family variant testing program.|
|9. Provide appropriate referrals to other specialists||9. Our Genetics Provider Network can put you in touch with local genetics professionals available to receive referral.|
1. Hershberger RE, et al. Genetic evaluation of cardiomyopathy—a Heart Failure Society of America practice guideline. J Card Fail. 15(2):83-97.
2. Ackerman MJ, et al. HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies. Heart Rhythm. 2011;8(8):1308-39.
3. Gersh BJ, et al. 2011 ACCF/AHA guideline for the diagnosis and treatment of hypertrophic cardiomyopathy: executive summary. J Am Coll Cardiol. 2011;58(25):2703-38.
4. Priori SG, et al. HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes: document endorsed by HRS, EHRA, and APHRS in May 2013 and by ACCF, AHA, PACES, and AEPC in June 2013. Heart Rhythm. 2013;10(12):1932-63.
5. Hiratzka LF, et al. 2010 ACCF/AHA/AATS/ACR/ASA/SCA/SCAI/SIR/STS/SVM guidelines for the diagnosis and management of patients with Thoracic Aortic Disease: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines, American Association for Thoracic Surgery, American College of Radiology, American Stroke Association, Society of Cardiovascular Anesthesiologists, Society for Cardiovascular Angiography and Interventions, Society of Interventional Radiology, Society of Thoracic Surgeons, and Society for Vascular Medicine. Circulation. 2010;121(13):e266-369.
6. Cirino AL, et al. Role of genetic testing in inherited cardiovascular disease: a review. JAMA Cardiol. 2017 Aug 9. [Epub ahead of print]
7. McNally EM. Incorporating genetic testing into cardiovascular practice. JAMA Cardiol. 2017 Aug 9. [Epub ahead of print]