2015 NHGRI Short Course: Genetics and Genomics Primer - Robert Wildin


Part of the 2015 NHGRI Summer Workshop in Genomics: Nursing Faculty and Educators. Dr. Robert Wilden presents a primer on genetics and genomics in two videos, which together are one hour and thirty-seven minutes in length.


Type Course
CME Available No
Topic
Cost Free
Note



Genomic Competencies

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

Pharmacist

  • Basic Genetic Concepts
    • B1:   To demonstrate an understanding of the basic genetic/genomic concepts and nomenclature
    • B2:   To recognize and appreciate the role of behavioral, social, and environmental factors (lifestyle, socioeconomic factors, pollutants, etc.) to modify or influence genetics in the manifestation of disease
  • Genetics and Disease
    • G1:   To understand the role of genetic factors in maintaining health and preventing disease

Nurse

  • Nursing Assessment
    • NA-1:   Demonstrate understanding of relationship of genetics and genomics to health
      • NA1-K1:   Relationship of genetics and genomics to health
        • NA1-1:   Collect a client's personal and three generation family health history to assess for genomic factors that impact the client's health.
      • NA1-K2:   Relationship of genetics and genomics to normal physiology and pathophysiology
        • NA1-1:   Collect a client's personal and three generation family health history to assess for genomic factors that impact the client's health.
      • NA1-K3:   Basic principles of pharmacogenetics and pharmacogenomics
        • NA1-1:   Collect a client's personal and three generation family health history to assess for genomic factors that impact the client's health.
      • NA1-K4:   Patterns of disease associated with single gene and multifactorial inheritance
        • NA1-1:   Collect a client's personal and three generation family health history to assess for genomic factors that impact the client's health.
  • Identification
    • ID-2:   Identify credible, accurate, appropriate, and current genetic and genomic information
      • ID2-K1:   Resources for health care professionals and lay public
        • ID2-1:   Evaluate strengths, limitations, and best use of genetic and/or genomic resource for a client or group of clients.
        • ID2-2:   Discuss the ways in which nurses can meet the educational, psychosocial and resource needs of clients and families affected by a genetic or genomic condition.
        • ID2-3:   Discuss the ways in which nurses can meet the knowledge, psychosocial and resource needs of clients and families affected by genetic/genomic technology.
        • ID2-4:   Identify resources available to assist clients seeking genetic and genomic information or services including the types of services available.
        • ID2-5:   Develop a list of contacts and resources for genetic/genomic referrals.
        • ID2-6:   Evaluate sources of evidence and clinical practice guidelines for a client whose care involves genetic and/or genomic health care. Use continuous quality improvement initiatives to update practice guidelines as necessary.
      • ID2-K2:   Resources for referral within one's community
        • ID2-1:   Evaluate strengths, limitations, and best use of genetic and/or genomic resource for a client or group of clients.
        • ID2-2:   Discuss the ways in which nurses can meet the educational, psychosocial and resource needs of clients and families affected by a genetic or genomic condition.
        • ID2-3:   Discuss the ways in which nurses can meet the knowledge, psychosocial and resource needs of clients and families affected by genetic/genomic technology.
        • ID2-4:   Identify resources available to assist clients seeking genetic and genomic information or services including the types of services available.
        • ID2-5:   Develop a list of contacts and resources for genetic/genomic referrals.
        • ID2-6:   Evaluate sources of evidence and clinical practice guidelines for a client whose care involves genetic and/or genomic health care. Use continuous quality improvement initiatives to update practice guidelines as necessary.
      • ID2-K3:   Roles of genetic/genomic health care professionals
        • ID2-1:   Evaluate strengths, limitations, and best use of genetic and/or genomic resource for a client or group of clients.
        • ID2-2:   Discuss the ways in which nurses can meet the educational, psychosocial and resource needs of clients and families affected by a genetic or genomic condition.
        • ID2-3:   Discuss the ways in which nurses can meet the knowledge, psychosocial and resource needs of clients and families affected by genetic/genomic technology.
        • ID2-4:   Identify resources available to assist clients seeking genetic and genomic information or services including the types of services available.
        • ID2-5:   Develop a list of contacts and resources for genetic/genomic referrals.
        • ID2-6:   Evaluate sources of evidence and clinical practice guidelines for a client whose care involves genetic and/or genomic health care. Use continuous quality improvement initiatives to update practice guidelines as necessary.
      • ID2-K4:   Interprofessional resources
        • ID2-1:   Evaluate strengths, limitations, and best use of genetic and/or genomic resource for a client or group of clients.
        • ID2-2:   Discuss the ways in which nurses can meet the educational, psychosocial and resource needs of clients and families affected by a genetic or genomic condition.
        • ID2-3:   Discuss the ways in which nurses can meet the knowledge, psychosocial and resource needs of clients and families affected by genetic/genomic technology.
        • ID2-4:   Identify resources available to assist clients seeking genetic and genomic information or services including the types of services available.
        • ID2-5:   Develop a list of contacts and resources for genetic/genomic referrals.
        • ID2-6:   Evaluate sources of evidence and clinical practice guidelines for a client whose care involves genetic and/or genomic health care. Use continuous quality improvement initiatives to update practice guidelines as necessary.
  • Referral activities
    • RA-1:   Facilitate referrals for specialized genetic and genomic services
      • RA1-K1:   Professional roles of providers delivering genetic and genomic services
        • ID2-5:   Develop a list of contacts and resources for genetic/genomic referrals.
      • RA1-K2:   Resources for health care professionals and lay public
        • ID2-5:   Develop a list of contacts and resources for genetic/genomic referrals.
      • RA1-K3:   Resources for genetic and genomic referrals within the community
        • ID2-5:   Develop a list of contacts and resources for genetic/genomic referrals.
  • Provision of education, care and support
    • PECS-2:   Provide clients with genetic and genomic information and resources for informed decision making
      • PECS2-K1:   Resources for healthcare professionals and lay public
        • ID2-5:   Develop a list of contacts and resources for genetic/genomic referrals.
      • PECS2-K2:   Referral resources for genetic and genomic services within one's community
        • ID2-5:   Develop a list of contacts and resources for genetic/genomic referrals.
      • PECS2-K3:   Roles of genetic/genomic health care professionals
        • ID2-5:   Develop a list of contacts and resources for genetic/genomic referrals.

Physician

  • 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-GT2C:   Practice-Based Learning and Improvement
      • 2C1:   Incorporate genomic findings into the health record and patient-care plan
      • 2C2:   Have a method for periodic review of ’new’ genomic interpretation for clinical applications.
    • P-GT2D:   Interpersonal and Communication Skills
      • 2D1:   Ensure that undergoing genomic testing is a joint decision of the patient and the physician
      • 2D2:   Explain and document findings from genomic testing to patient, including implications for other family members
      • 2D3:   Facilitate access to resources to enhance patient learning about the results of genomic testing
      • 2D4:   Address the needs of the patient as an individual as well as the needs of family members
    • P-GT2G:   Interprofessional Collaboration
      • 2G1:   Initiate responsible referrals to specialists or other health professionals
      • 2G2:   Provide support to patients based on recommendations of specialists
      • 2G3:   Maintain a dialog with the clinical laboratory to ensure that the appropriate test(s) are ordered and interpreted in the context of the patient’s clinical status
    • P-GT2H:   Personal and Professional Development
      • 2H1:   Engage in continuing education regarding advances in genomic medicine and changing indications for and interpretation of genomic testing
  • 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
    • P-PM3D:   Interpersonal and Communication Skills
      • 3D1:   Discuss benefits, risks, and alternatives of various preventive and therapeutic approaches driven by genomic findings
      • 3D2:   Communicate clearly with other medical professionals involved in the care of the patient about the therapeutic implications of the genetic information garnered about the patient 3D3. Discuss pharmacogenomics implications for future health
      • 3D3:   Discuss pharmacogenomics implications for future health
    • P-PM3H:   Personal and Professional Development
      • 3H1:   Maintain the medical knowledge and clinical competence in genomics required for the provision of therapy
      • 3H2:   Be familiar with the available databases and resources relevant to genetic variation, including ongoing clinical trials involving patients with genetic disorders, pharmacogenomics, and patient-oriented Internet resources from reliable organizations

Genetic Counselor

  • Genetics Expertise and Analysis
    • 2:   Integrate knowledge of psychosocial aspects of conditions with a genetic component to promote client well-being.
      • 2a:   Demonstrate an understanding of psychosocial, ethical, and legal issues related to genetic counseling encounters.
      • 2b:   Describe common emotional and/or behavioral responses that may commonly occur in the genetic counseling context.
      • 2c:   Recognize the importance of understanding the lived experiences of people with various genetic/genomic conditions.
      • 2d:   Evaluate the potential impact of psychosocial issues on client decision-making and adherence to medical management.
  • Education
    • 14:   Effectively educate clients about a wide range of genetics and genomics information based on their needs, their characteristics and the circumstances of the encounter.
      • 14a:   Identify factors that affect the learning process such as intellectual ability, emotional state, socioeconomic factors, physical abilities, religious and cultural beliefs, motivation, language and educational background.
      • 14b:   Recognize and apply risk communication principles and theory to maximize client understanding.
      • 14c:   Communicate relevant genetic and genomic information to help clients understand and adapt to conditions or the risk of conditions and to engage in informed decision-making.
      • 14d:   Utilize a range of tools to enhance the learning encounter such as handouts, visual aids, and other educational technologies.
      • 14e:   Communicate both orally and in writing using a style and method that is clear and unambiguous.
      • 14f:   Present balanced descriptions of lived experiences of people with various conditions.
      • 14g:   Explain and address client concerns regarding genetic privacy and related protections.
      • 14h:   Employ strategies for successful communication when working with interpreters.
    • 15:   Write concise and understandable clinical and scientific information for audiences of varying educational backgrounds.
      • 15a:   Develop written educational materials tailored to the intended audience.
      • 15b:   Recognize the professional and legal importance of medical documentation and confidentiality.
      • 15c:   Assess the challenges faced by clients with low literacy and modify the presentation of information to reduce the literacy burden.
    • 16:   Effectively give a presentation on genetics, genomics and genetic counseling issues.
      • 16a:   Assess and determine the educational goals and learning objectives based on the needs and characteristics of the audience.
      • 16b:   Develop an educational method or approach that best facilitates the educational goals of the presentation and considers the characteristics of the audience.
      • 16c:   Present using a delivery style that results in effective communication to the intended audience that is clear and unambiguous.
      • 16d:   Assess one's own teaching style and use feedback and other outcome data to refine future educational encounters.
  • Professional Development & Practice
    • 17:   Act in accordance with the ethical, legal and philosophical principles and values of the genetic counseling profession and the policies of one's institution or organization.
      • 17a:   Follow the guidance of the National Society of Genetic Counselors Code of Ethics.
      • 17b:   Recognize and respond to ethical and moral dilemmas arising in genetic counseling practice and seek outside consultation when needed.
      • 17c:   Identify and utilize factors that promote client autonomy
      • 17d:   Ascertain and comply with current professional credentialing requirements, at the institutional, state, regional and national level.
      • 17e:   Recognize and acknowledge situations that may result in a real or perceived conflict of interest.
    • 18:   Demonstrate understanding of the research process.
      • 18a:   Articulate the value of research to enhance the practice of genetic counseling.
      • 18b:   Demonstrate an ability to formulate a research question.
      • 18c:   Recognize the various roles a genetic counselor can play on a research team and identify opportunities to participate in and/or lead research studies.
      • 18d:   Identify available research-related resources.
      • 18e:   Apply knowledge of research methodology and study design to critically evaluate research outcomes.
      • 18f:   Apply knowledge of research methodology and study designs to educate clients about research studies relevant to them/their family.
      • 18g:   Describe the importance of human subjects' protection and the role of the Institutional Review Board (IRB) process.
    • 19:   Advocate for individuals, families, communities and the genetic counseling profession.
      • 19a:   Recognize the potential tension between the values of clients, families, communities and the genetic counseling profession.
      • 19b:   Support client and community interests in access- ing, or declining, social and health services and clinical research.
      • 19c:   Identify genetic professional organizations and describe opportunities for participation and leadership.
      • 19d:   Employ strategies that to increase/promote access to genetic counseling services.