Basic Concepts and Potential Applications of Genetics and Genomics for Cardiovascular and Stroke Clinicians: A Scientific Statement From the American Heart Association

Although genetics and genomics play an increasingly large role in the practice of medicine, the clinical care of patients suffering from cardiovascular disease or stroke has not been significantly affected. This is despite the tremendous strides being made to understand the genetic basis of both rare and common cardiovascular and stroke disorders through techniques such as genome-wide association studies (GWASs) and next-generation sequencing studies. Much of this knowledge remains to be translated to the clinic and must be subjected to clinical trials to ensure patient safety and a meaningful impact on clinical outcomes. However, even if this knowledge were to be successfully implemented into clinical practice, a potential barrier to widespread adoption is a lack of familiarity with basic concepts of genetics and genomics. Another concern is the possibility of the emergence of a significant gap in clinical care provided by practitioners who are informed about the clinical use of genetics and genomics knowledge and those who are not. Thus, there is a critical need to foster genetics/genomics literacy among all involved in the care of cardiovascular and stroke patients because it can be expected that these topics will transform the way medicine is practiced. The purpose of this document is to serve as a resource for practitioners in cardiovascular and stroke medicine on the application of genetics and genomics to patient care. Although not exhaustive, it contains an overview of the field written specifically to be accessible and relevant to practitioners. It also refers to additional educational materials available in the literature, in textbooks, and on the Internet. (Because this article is intended to be primarily educational in nature, rather than providing a review of the literature, citations are limited to a small number of research articles and reviews of exceptional interest.) It recommends a core knowledge base with which practitioners and especially trainees in cardiovascular and stroke clinical care should be familiar. Finally, it is intended to be a companion to the American Heart Association’s Council on Functional Genomics and Translational Biology Online Educational Series, in which online modules covering the topics outlined in this document are discussed in greater depth and are accessible to members of the cardiovascular and stroke clinical communities.



Type Guideline
CME Available No
Topic
Cost Free
Note



Genomic Competencies

Experts from the disciplines listed below have tagged this resource as fulfulling genomic competencies.

Pharmacist

  • Genetics and Disease
    • G1:   To understand the role of genetic factors in maintaining health and preventing disease
    • G2:   To assess the difference between clinical diagnosis of disease and identification of genetic predisposition to disease (genetic variation is not strictly correlated with disease manifestation)
    • G3:   To appreciate that pharmacogenomic testing may also reveal certain genetic disease predispositions (e.g. the Apo E4 polymorphism)

Nurse

  • Professional Responsibilities
    • PR-1:   Recognize one's own attitudes and values
      • PR1-K1:   Values, attitudes and beliefs
        • PR1-1:   Engage in reflective practice about one's own beliefs and values related to client care that integrates genetics and genomics.
      • PR1-K2:   Impact of personal values, attitudes and beliefs
        • PR1-1:   Engage in reflective practice about one's own beliefs and values related to client care that integrates genetics and genomics.
  • Referral activities
    • RA-1:   Facilitate referrals for specialized genetic and genomic services
      • RA1-K1:   Professional roles of providers delivering genetic and genomic services
        • RA1-1:   Develop an interprofessional plan of care in collaboration with the client that incorporates genetics and genomics.
        • RA1-2:   Uses genetic and genomic indicators as rationale for clients who may benefit from further evaluation or other risk management interventions.
        • RA1-3:   Develop a plan for follow-up of a client post genetics/genomic referral.
      • RA1-K2:   Resources for health care professionals and lay public
        • RA1-1:   Develop an interprofessional plan of care in collaboration with the client that incorporates genetics and genomics.
        • RA1-2:   Uses genetic and genomic indicators as rationale for clients who may benefit from further evaluation or other risk management interventions.
        • RA1-3:   Develop a plan for follow-up of a client post genetics/genomic referral.
      • RA1-K3:   Resources for genetic and genomic referrals within the community
        • RA1-1:   Develop an interprofessional plan of care in collaboration with the client that incorporates genetics and genomics.
        • RA1-2:   Uses genetic and genomic indicators as rationale for clients who may benefit from further evaluation or other risk management interventions.
        • RA1-3:   Develop a plan for follow-up of a client post genetics/genomic referral.

Physician

  • Family History
    • P-FH1A:   Patient Care
      • 1A1:   Conduct patient interview to assemble family history
      • 1A2:   Use standard pedigree symbols in assembling family history
      • 1A3:   Recognize patterns of Mendelian inheritance and calculate simple Mendelian risks; provide this information to patients and family members as appropriate
      • 1A4:   Use empirical risk figures to provide appropriate information for complex (multifactorial) medical conditions.
      • 1A5:   Recognize that traits may cluster in families due to multifactorial rather than Mendelian patterns of inheritance
      • 1A6:   Formulate an action plan to address relevant family history information
    • P-FH1B:   Knowledge for Practice
      • 1B1:   Describe the basic patterns of Mendelian inheritance
      • 1B2:   Explain the difference between Mendelian and multifactorial inheritance
  • Genomic Testing
    • P-GT2A:   Patient Care
      • 2A1:   Discuss the indications for genomic testing - specifically the benefits, risks, and alternatives
      • 2A2:   Explain the implications of placing genomic test results in the patient’s medical record
      • 2A3:   Discuss the possibility of incidental findings and how they will be handled
      • 2A4:   Discuss risks of having genomic testing done: e.g., psychological implications for the individual as well as the family; the potential for discrimination; and the potential effect on insurance coverage.
      • 2A5:   Explain to the patient issues of costs and financial coverage of genomic testing
      • 2A6:   Order, interpret, and communicate the results of appropriate genomic tests, within the physician’s scope of practice
      • 2A7:   Provide referral to an appropriate specialist for genomic testing of a condition outside the physician’s scope of practice
      • 2A8:   Respond to the results of an abnormal genetic screening test, such as newborn screening, including immediate management and appropriate referral
    • P-GT2B:   Knowledge for Practice
      • 2B1:   Describe the major forms of genomic variability
      • 2B2:   Explain how different genomic changes may result in different phenotypes
      • 2B3:   Recognize that genomic tests require interpretation with respect to the patient’s clinical status (e.g., pathogenic, likely pathogenic, benign)
      • 2B4:   Explain the concepts of analytic validity, clinical validity, clinical utility as they relate to genomic testing
      • 2B5:   Recognize that medically ’non-actionable’ genomic results can be useful to the patient and family (i.e., personal utility)
    • P-GT2E:   Professionalism
      • 2E1:   Be aware of and comply with local and federal laws and regulations regarding use of genomic tests
      • 2E2:   Be aware of and responsive to patients’ concerns about genetic discrimination
  • Patient Treatment Based on Genomic Results
    • P-PM3A:   Patient Care
      • 3A1:   Identify medical conditions and drug responses that have a strong genetic component
      • 3A2:   Recognize that variants affecting drug responses found in a patient may also have implications for other family members
      • 3A3:   Discern the potential clinical impact of genetic variation on risk stratification and individualized treatment
    • P-PM3B:   Knowledge for Practice
      • 3B1:   Appreciate the importance of genetic diversity of humans and the abundance of genetic variants in each individual genome
      • 3B2:   Identify single-gene disorders that may be amenable to targeted pharmacological therapy
      • 3B3:   Recognize that genomic test results may guide choice of therapy for multifactorial disorders
      • 3B4:   Recognize that there is variability in the phenotypic expression of genetic variants and in response to therapy
      • 3B5:   Recognize that the effects of some medications are strongly influenced by inherited or somatically acquired genetic variation

Genetic Counselor

  • Genetics Expertise and Analysis
    • 1:   Demonstrate and utilize a depth and breadth of understanding and knowledge of genetics and genomics core concepts and principles.
      • 1a:   Demonstrate knowledge of principles of human, medical, and public health genetics and genomics and their related sciences.
      • 1b:   Apply knowledge of genetic principles and understand how they contribute to etiology, clinical features and disease expression, natural history, differential diagnoses, genetic testing and test report interpretation, pathophysiology, recurrence risk, management and prevention, and population screening.
    • 7:   Critically assess genetic/genomic, medical and social science literature and information.
      • 7d:   Incorporate medical and scientific literature into evidenced-based practice recognizing that there are limitations and gaps in knowledge and data.