Society of Gynecologic Oncology: 2016 Genetics Toolkit

The Society of Gynecologic Oncology has partnered with medical societies and patient advocacy groups to develop a toolkit designed to provide critical, practical information to heath care provers interested in gaining a deeper understanding of the role of genetics in gynecologic cancers. While not written for a lay audience, patients and families will gain an appreciation for the complexity of genetic testing and the challenges providers face every day. The toolkit is comprised of specific case studies telling an individual woman’s story. Key points are illuminated from each organization’s perspective. Each case history provides references, national guidelines and society statements. A “General Resources” section includes useful tools and websites of interest.


Type Website
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
    • B3:   To identify drug and disease associated genetic variations that facilitate development of prevention, diagnostic and treatment strategies and appreciate there are differences in testing methodologies and are aware of the need to explore these differences these differences in drug literature evaluation
    • B4:   To use family history (minimum of three generations) in assessing predisposition to disease and selection of drug treatment
  • Ethical, Legal and Social Implications (ELSI)
    • E1:   To understand the potential physical and/or psychosocial benefits, limitations and risk of genomic/pharmacogenomic information for individuals, family members and communities, especially with genomic/pharmacogenomic tests that may relate to predisposition to disease
    • E4:   To appreciate the cost, cost-effectiveness, and reimbursement by insurers relevant to genomic or pharmacogenomic tests and test interpretation, for patients and populations
    • E5:   To Identify the need to refer a patient to a genetic specialist or genetic counselor
  • Genetics and 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)
  • Pharmacogenetics/Pharmacogenomics
    • P3:   Recognize the availability of evidence based guidelines that synthesize information relevant to genomic/pharmacogenomic tests and selection of drug therapy (e.g. Clinical Pharmacogenomics Implementation Consortium)

Physician Assistant

  • Patient Care
    • 1:   Gather family history information and construct a multigenerational pedigree.
    • 2:   Identify patients who would benefit from referral to genetics professionals
    • 3:   Distinguish between genetic screening and genetic testing
    • 4:   Incorporate genetic tests into patient management
    • 5:   Discuss the range of genetic and genomic-based approaches to the treatment of disease.
  • Medical Knowledge For Practice
    • 1:   Describe the cellular and molecular mechanisms underlying human inheritance.
    • 2:   Define the role of genetic variation in health and disease
  • Interpersonal & Communications Skills
    • 1:   When communicating genetic information to patients, consider personal factors that may influence their understanding and response.
    • 2:   Explain the role of genetics professionals in the patient-care plan
    • 3:   Promote informed decision making for patients, and provide nondirective counseling

Nurse

  • Professional Responsibilities
    • PR-2:   Advocate for clients' access
      • PR2-K1:   Resources for healthcare professionals and lay public
        • PR2-1:   Demonstrate appropriate care and concern for all clients throughout their referral, provision of direct care and follow-up to genetic services.
        • PR2-2:   Demonstrate knowledge about accessing local/regional genetic and/or genomic resources.
        • PR2-3:   Include genetic health care professionals in team building and collaborative strategies to optimize client outcomes.
        • PR2-4:   Help client negotiate system barriers that limit access to genetic/genomic services.
        • PR2-5:   Identify strategies that could be used to facilitate reimbursement for access to genetic/genomic services and/or tests.
      • PR2-K2:   Resources for genetic and/or genomic referrals within one's community
        • PR2-1:   Demonstrate appropriate care and concern for all clients throughout their referral, provision of direct care and follow-up to genetic services.
        • PR2-2:   Demonstrate knowledge about accessing local/regional genetic and/or genomic resources.
        • PR2-3:   Include genetic health care professionals in team building and collaborative strategies to optimize client outcomes.
        • PR2-4:   Help client negotiate system barriers that limit access to genetic/genomic services.
        • PR2-5:   Identify strategies that could be used to facilitate reimbursement for access to genetic/genomic services and/or tests.
    • PR-3:   Examine competency of practice
      • PR3-K1:   Scope of nursing practice in relation to genetics/genomics
        • PR3-1:   Identify relevance of genetics/genomics to practice of your discipline.
        • PR3-2:   Demonstrate awareness of the boundaries of one's own professional practice in relation to genetics/genomics.
        • PR3-3:   Perform regular self assessments to identify knowledge and skills deficits that could impact the quality of nursing care one provides to clients in need of genetic/genomic guidance, referral and resources.
        • PR3-4:   Take action to meet identified knowledge and skills deficits related to genetics and genomics.
      • PR3-K2:   Role of specialist genetic/genomic services
        • PR3-1:   Identify relevance of genetics/genomics to practice of your discipline.
        • PR3-2:   Demonstrate awareness of the boundaries of one's own professional practice in relation to genetics/genomics.
        • PR3-3:   Perform regular self assessments to identify knowledge and skills deficits that could impact the quality of nursing care one provides to clients in need of genetic/genomic guidance, referral and resources.
        • PR3-4:   Take action to meet identified knowledge and skills deficits related to genetics and genomics.
      • PR3-K3:   Interprofessional resources
        • PR3-1:   Identify relevance of genetics/genomics to practice of your discipline.
        • PR3-2:   Demonstrate awareness of the boundaries of one's own professional practice in relation to genetics/genomics.
        • PR3-3:   Perform regular self assessments to identify knowledge and skills deficits that could impact the quality of nursing care one provides to clients in need of genetic/genomic guidance, referral and resources.
        • PR3-4:   Take action to meet identified knowledge and skills deficits related to genetics and genomics.
    • PR-4:   Incorporate genetic and genomic technologies and information into practice.
      • PR4-K1:   Technology and information systems
        • PR4-1:   Evaluate genetic and genomic technologies used in client care.
        • PR4-2:   Demonstrate use of genetic and genomic technology and client data for clinical decision-making in providing safe client care.
        • PR4-3:   Identify the credibility, reliability and limitations of genetic and genomic information.
        • PR4-4:   Identify ethical, legal, and social issues associated with genetic/genomic information.
    • PR-5:   Demonstrate the importance of tailoring genetic and genomic information and services
      • PR5-K1:   Cultural, social, ethnic and religious perspectives
        • PR5-1:   Incorporate client's cultural, social, ethnic and religious perspective and literacy level when delivering genetic and genomic care.
        • PR5-2:   Integrate knowledge from psychology, history, politics, sociology and culture when delivering genetic and genomic care.
      • PR5-K2:   Economic and health disparities
        • PR5-1:   Incorporate client's cultural, social, ethnic and religious perspective and literacy level when delivering genetic and genomic care.
        • PR5-2:   Integrate knowledge from psychology, history, politics, sociology and culture when delivering genetic and genomic care.
    • PR-6:   Advocate for the rights of all clients
      • PR6-K1:   Potential benefits, risks and limitations
        • PR6-1:   Ensure privacy when discussing genetic and genomic information.
        • PR6-2:   Maintain confidentiality when recording genetic and genomic information.
        • PR6-3:   Demonstrate awareness of the potential impact of genetic/genomic information on the individual and other family members.
        • PR6-4:   Respond appropriately to inquiries about genetic and genomic health care concerns.
      • PR6-K2:   Ethical, legal and social issues
        • PR6-1:   Ensure privacy when discussing genetic and genomic information.
        • PR6-2:   Maintain confidentiality when recording genetic and genomic information.
        • PR6-3:   Demonstrate awareness of the potential impact of genetic/genomic information on the individual and other family members.
        • PR6-4:   Respond appropriately to inquiries about genetic and genomic health care concerns.
      • PR6-K3:   Impact of genetic and genomic information
        • PR6-1:   Ensure privacy when discussing genetic and genomic information.
        • PR6-2:   Maintain confidentiality when recording genetic and genomic information.
        • PR6-3:   Demonstrate awareness of the potential impact of genetic/genomic information on the individual and other family members.
        • PR6-4:   Respond appropriately to inquiries about genetic and genomic health care concerns.
      • PR6-K4:   Components of informed decision-making
        • PR6-1:   Ensure privacy when discussing genetic and genomic information.
        • PR6-2:   Maintain confidentiality when recording genetic and genomic information.
        • PR6-3:   Demonstrate awareness of the potential impact of genetic/genomic information on the individual and other family members.
        • PR6-4:   Respond appropriately to inquiries about genetic and genomic health care concerns.
  • 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.
        • NA1-2:   Identify potentially significant information from a family history.
        • NA1-3:   Identify clients who might benefit from referral to genetic specialists and/or information resources.
        • NA1-4:   Facilitate appropriate referral to genetic specialists, accurately documenting and communicating relevant history and clinical data.
        • NA1-5:   Describe a typical client journey that might be experienced in the process of genetic counseling.
        • NA1-6:   Describe genetic/genomic factors that contribute to variability of response to pharmacologic agents.
        • NA1-7:   Incorporate genetic and genomic health assessment data into routinely collected biopsychosocial and environmental assessments of health and illness parameters in client, using culturally sensitive approaches.
        • NA1-8:   Identify resources available to assist clients seeking genetic and genomic information or services including the types of services available.
      • 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.
        • NA1-2:   Identify potentially significant information from a family history.
        • NA1-3:   Identify clients who might benefit from referral to genetic specialists and/or information resources.
        • NA1-4:   Facilitate appropriate referral to genetic specialists, accurately documenting and communicating relevant history and clinical data.
        • NA1-5:   Describe a typical client journey that might be experienced in the process of genetic counseling.
        • NA1-6:   Describe genetic/genomic factors that contribute to variability of response to pharmacologic agents.
        • NA1-7:   Incorporate genetic and genomic health assessment data into routinely collected biopsychosocial and environmental assessments of health and illness parameters in client, using culturally sensitive approaches.
        • NA1-8:   Identify resources available to assist clients seeking genetic and genomic information or services including the types of services available.
      • 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.
        • NA1-2:   Identify potentially significant information from a family history.
        • NA1-3:   Identify clients who might benefit from referral to genetic specialists and/or information resources.
        • NA1-5:   Describe a typical client journey that might be experienced in the process of genetic counseling.
        • NA1-6:   Describe genetic/genomic factors that contribute to variability of response to pharmacologic agents.
        • NA1-7:   Incorporate genetic and genomic health assessment data into routinely collected biopsychosocial and environmental assessments of health and illness parameters in client, using culturally sensitive approaches.
        • NA1-8:   Identify resources available to assist clients seeking genetic and genomic information or services including the types of services available.
      • 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.
        • NA1-2:   Identify potentially significant information from a family history.
        • NA1-3:   Identify clients who might benefit from referral to genetic specialists and/or information resources.
        • NA1-4:   Facilitate appropriate referral to genetic specialists, accurately documenting and communicating relevant history and clinical data.
        • NA1-5:   Describe a typical client journey that might be experienced in the process of genetic counseling.
        • NA1-6:   Describe genetic/genomic factors that contribute to variability of response to pharmacologic agents.
        • NA1-8:   Identify resources available to assist clients seeking genetic and genomic information or services including the types of services available.
    • NA-5:   Conducts assessments incorporating genetic, environmental, and genomic influences and risk factors
      • NA5-K1:   Fundamentals of genetic and genomic focused health and physical assessment
        • NA1-7:   Incorporate genetic and genomic health assessment data into routinely collected biopsychosocial and environmental assessments of health and illness parameters in client, using culturally sensitive approaches.
      • NA5-K2:   Basics of risk factors
        • NA1-7:   Incorporate genetic and genomic health assessment data into routinely collected biopsychosocial and environmental assessments of health and illness parameters in client, using culturally sensitive approaches.
    • NA-6:   Analyze the history and physical assessment for genetic, environmental, and genomic influences
      • NA6-K1:   Pathophysiological, medical and nursing evaluation of common acute and chronic disease
        • NA6-1:   Identify genetic and genomic factors within collected history and physical assessment data that contribute to disease and/or health risks.
        • NA6-2:   Demonstrate ability to incorporate family history as part of the nursing assessment.
        • NA6-3:   Document family history information on three-generations on both maternal and paternal side, when available.
        • NA6-4:   Document key genetic and genomic assessment information.
        • NA6-5:   Identify components of assessment data that contribute to disease and/or health risks to establish a plan of care.
      • NA6-K2:   Indicators of disease susceptibility or a genetic condition
        • NA6-1:   Identify genetic and genomic factors within collected history and physical assessment data that contribute to disease and/or health risks.
        • NA6-2:   Demonstrate ability to incorporate family history as part of the nursing assessment.
        • NA6-3:   Document family history information on three-generations on both maternal and paternal side, when available.
        • NA6-4:   Document key genetic and genomic assessment information.
        • NA6-5:   Identify components of assessment data that contribute to disease and/or health risks to establish a plan of care.
      • NA6-K3:   Assessment and diagnosis of acute and chronic disease
        • NA6-1:   Identify genetic and genomic factors within collected history and physical assessment data that contribute to disease and/or health risks.
        • NA6-2:   Demonstrate ability to incorporate family history as part of the nursing assessment.
        • NA6-3:   Document family history information on three-generations on both maternal and paternal side, when available.
        • NA6-4:   Document key genetic and genomic assessment information.
        • NA6-5:   Identify components of assessment data that contribute to disease and/or health risks to establish a plan of care.
    • NA-7:   Assess client's knowledge, perceptions, and responses
      • NA7-K1:   Cultural, social, ethnic and religious perspectives
        • NA7-1:   Demonstrate the ability to assess clients cultural, religious and ethnic perspectives with regards to genetics and genomics.
        • NA7-10:   Demonstrate use of language appropriate to the client's level of understanding and developmental age when explaining genetic and genomic information.
        • NA7-11:   Demonstrate assessment of the clients' understanding of genetic and genomic information.
        • NA7-12:   Demonstrate assessment of social and psychological responses to genetic/genomic information.
        • NA7-2:   Demonstrate an awareness of the client's background in facilitating communication about genetic and genomic issues.
        • NA7-3:   Demonstrate the ability to use resources to facilitate effective communication and access to genetic services.
        • NA7-4:   Use communication skills to promote and check the client's understanding of genetic and genomic information.
        • NA7-5:   Demonstrate an awareness of client's needs, showing fairness and sensitivity when exploring the rationale for seeking specialist genetic advice/referral.
        • NA7-6:   Identify situations when the nurse's own beliefs and values may have potential to influence the genetic and genomic care given to clients.
        • NA7-7:   Identify situations where clients' own beliefs and/or values influence genetic and genomic care choices.
        • NA7-8:   Use communication skills to enable the client to express his or her own wishes, or to pursue a chosen course of action for genetic and genomic services.
        • NA7-9:   Display a non-judgmental attitude at all times.
      • NA7-K2:   Social and psychological implications of accessing genetic services and information
        • NA7-1:   Demonstrate the ability to assess clients cultural, religious and ethnic perspectives with regards to genetics and genomics.
        • NA7-10:   Demonstrate use of language appropriate to the client's level of understanding and developmental age when explaining genetic and genomic information.
        • NA7-11:   Demonstrate assessment of the clients' understanding of genetic and genomic information.
        • NA7-12:   Demonstrate assessment of social and psychological responses to genetic/genomic information.
        • NA7-2:   Demonstrate an awareness of the client's background in facilitating communication about genetic and genomic issues.
        • NA7-3:   Demonstrate the ability to use resources to facilitate effective communication and access to genetic services.
        • NA7-4:   Use communication skills to promote and check the client's understanding of genetic and genomic information.
        • NA7-5:   Demonstrate an awareness of client's needs, showing fairness and sensitivity when exploring the rationale for seeking specialist genetic advice/referral.
        • NA7-6:   Identify situations when the nurse's own beliefs and values may have potential to influence the genetic and genomic care given to clients.
        • NA7-7:   Identify situations where clients' own beliefs and/or values influence genetic and genomic care choices.
        • NA7-8:   Use communication skills to enable the client to express his or her own wishes, or to pursue a chosen course of action for genetic and genomic services.
        • NA7-9:   Display a non-judgmental attitude at all times.
      • NA7-K3:   Ethical and legal issues
        • NA7-1:   Demonstrate the ability to assess clients cultural, religious and ethnic perspectives with regards to genetics and genomics.
        • NA7-10:   Demonstrate use of language appropriate to the client's level of understanding and developmental age when explaining genetic and genomic information.
        • NA7-11:   Demonstrate assessment of the clients' understanding of genetic and genomic information.
        • NA7-12:   Demonstrate assessment of social and psychological responses to genetic/genomic information.
        • NA7-2:   Demonstrate an awareness of the client's background in facilitating communication about genetic and genomic issues.
        • NA7-3:   Demonstrate the ability to use resources to facilitate effective communication and access to genetic services.
        • NA7-4:   Use communication skills to promote and check the client's understanding of genetic and genomic information.
        • NA7-5:   Demonstrate an awareness of client's needs, showing fairness and sensitivity when exploring the rationale for seeking specialist genetic advice/referral.
        • NA7-6:   Identify situations when the nurse's own beliefs and values may have potential to influence the genetic and genomic care given to clients.
        • NA7-7:   Identify situations where clients' own beliefs and/or values influence genetic and genomic care choices.
        • NA7-8:   Use communication skills to enable the client to express his or her own wishes, or to pursue a chosen course of action for genetic and genomic services.
        • NA7-9:   Display a non-judgmental attitude at all times.
      • NA7-K4:   Principles of autonomous decisionmaking in genetic counseling
        • NA7-1:   Demonstrate the ability to assess clients cultural, religious and ethnic perspectives with regards to genetics and genomics.
        • NA7-10:   Demonstrate use of language appropriate to the client's level of understanding and developmental age when explaining genetic and genomic information.
        • NA7-11:   Demonstrate assessment of the clients' understanding of genetic and genomic information.
        • NA7-12:   Demonstrate assessment of social and psychological responses to genetic/genomic information.
        • NA7-2:   Demonstrate an awareness of the client's background in facilitating communication about genetic and genomic issues.
        • NA7-3:   Demonstrate the ability to use resources to facilitate effective communication and access to genetic services.
        • NA7-4:   Use communication skills to promote and check the client's understanding of genetic and genomic information.
        • NA7-5:   Demonstrate an awareness of client's needs, showing fairness and sensitivity when exploring the rationale for seeking specialist genetic advice/referral.
        • NA7-6:   Identify situations when the nurse's own beliefs and values may have potential to influence the genetic and genomic care given to clients.
        • NA7-7:   Identify situations where clients' own beliefs and/or values influence genetic and genomic care choices.
        • NA7-8:   Use communication skills to enable the client to express his or her own wishes, or to pursue a chosen course of action for genetic and genomic services.
        • NA7-9:   Display a non-judgmental attitude at all times.
      • NA7-K5:   Principles of client genetic/genomic education and counseling
        • NA7-1:   Demonstrate the ability to assess clients cultural, religious and ethnic perspectives with regards to genetics and genomics.
        • NA7-11:   Demonstrate assessment of the clients' understanding of genetic and genomic information.
        • NA7-12:   Demonstrate assessment of social and psychological responses to genetic/genomic information.
        • NA7-2:   Demonstrate an awareness of the client's background in facilitating communication about genetic and genomic issues.
        • NA7-3:   Demonstrate the ability to use resources to facilitate effective communication and access to genetic services.
        • NA7-4:   Use communication skills to promote and check the client's understanding of genetic and genomic information.
        • NA7-5:   Demonstrate an awareness of client's needs, showing fairness and sensitivity when exploring the rationale for seeking specialist genetic advice/referral.
        • NA7-6:   Identify situations when the nurse's own beliefs and values may have potential to influence the genetic and genomic care given to clients.
        • NA7-7:   Identify situations where clients' own beliefs and/or values influence genetic and genomic care choices.
        • NA7-8:   Use communication skills to enable the client to express his or her own wishes, or to pursue a chosen course of action for genetic and genomic services.
        • NA7-9:   Display a non-judgmental attitude at all times.
    • NA-8:   Develop a plan of care that incorporates genetic and genomic assessment information.
      • NA8-K1:   Interprofessional plan of care
        • NA8-1:   Develop, in partnership with the client, a health care plan that takes into account genetic and genomic determinants of health, available resources, and range of activities that contribute to health and prevention of illness, injury, disability and premat
        • NA8-2:   Integrate best evidence, clinical judgment, client preferences, and family implications in planning genetic and genomic focused individualized care.
  • Identification
    • ID-1:   Identify clients who may benefit from genetic and genomic information and services
      • ID1-K1:   Components of family history needed to identify disease susceptibility or genetic/genomic condition
        • ID1-1:   Identify factors in a family and health history that contribute to: disease susceptibility; disease characteristics, treatment, prognosis; or genetic/genomic condition.
        • ID1-2:   Identify clients who may benefit from further evaluation of the identified disease susceptibility or genetic/genomic condition.
        • ID1-3:   Demonstrate assessment of client concerns or understanding about information received from specialty genetic services (i.e., on-line genetic testing results).
        • ID1-4:   Uses genetic and genomic indicators as rationale for clients who may benefit from further evaluation or other risk management interventions.
        • ID1-5:   Incorporate into the interprofessional plan of care the need for further genetic/genomic evaluation or other risk management interventions in collaboration with the client.
      • ID1-K2:   Inheritance patterns
        • ID1-1:   Identify factors in a family and health history that contribute to: disease susceptibility; disease characteristics, treatment, prognosis; or genetic/genomic condition.
        • ID1-2:   Identify clients who may benefit from further evaluation of the identified disease susceptibility or genetic/genomic condition.
        • ID1-3:   Demonstrate assessment of client concerns or understanding about information received from specialty genetic services (i.e., on-line genetic testing results).
        • ID1-4:   Uses genetic and genomic indicators as rationale for clients who may benefit from further evaluation or other risk management interventions.
        • ID1-5:   Incorporate into the interprofessional plan of care the need for further genetic/genomic evaluation or other risk management interventions in collaboration with the client.
      • ID1-K3:   Indicators of disease susceptibility or a genetic condition
        • ID1-1:   Identify factors in a family and health history that contribute to: disease susceptibility; disease characteristics, treatment, prognosis; or genetic/genomic condition.
        • ID1-2:   Identify clients who may benefit from further evaluation of the identified disease susceptibility or genetic/genomic condition.
        • ID1-3:   Demonstrate assessment of client concerns or understanding about information received from specialty genetic services (i.e., on-line genetic testing results).
        • ID1-4:   Uses genetic and genomic indicators as rationale for clients who may benefit from further evaluation or other risk management interventions.
        • ID1-5:   Incorporate into the interprofessional plan of care the need for further genetic/genomic evaluation or other risk management interventions in collaboration with the client.
      • ID1-K4:   Common health conditions with a genetic/genomic component
        • ID1-1:   Identify factors in a family and health history that contribute to: disease susceptibility; disease characteristics, treatment, prognosis; or genetic/genomic condition.
        • ID1-2:   Identify clients who may benefit from further evaluation of the identified disease susceptibility or genetic/genomic condition.
        • ID1-3:   Demonstrate assessment of client concerns or understanding about information received from specialty genetic services (i.e., on-line genetic testing results).
        • ID1-4:   Uses genetic and genomic indicators as rationale for clients who may benefit from further evaluation or other risk management interventions.
        • ID1-5:   Incorporate into the interprofessional plan of care the need for further genetic/genomic evaluation or other risk management interventions in collaboration with the client.
      • ID1-K5:   Indicators of need for targeted treatment selection
        • ID1-1:   Identify factors in a family and health history that contribute to: disease susceptibility; disease characteristics, treatment, prognosis; or genetic/genomic condition.
        • ID1-2:   Identify clients who may benefit from further evaluation of the identified disease susceptibility or genetic/genomic condition.
        • ID1-4:   Uses genetic and genomic indicators as rationale for clients who may benefit from further evaluation or other risk management interventions.
        • ID1-5:   Incorporate into the interprofessional plan of care the need for further genetic/genomic evaluation or other risk management interventions in collaboration with the client.
    • 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.
    • ID-3:   Identify ethical, ethnic/ancestral, cultural, religious, legal, fiscal and societal issues
      • ID3-K1:   Cultural, ethnic, family values, traditions, health beliefs and religious perspectives
        • ID3-1:   Demonstrate the ability to assess cultural, language, family values, traditions, health beliefs and religious perspectives that influence access to and use of genetic/genomic information, technology, and services.
        • ID3-2:   Identify cultural, language, family values, traditions, health beliefs and religious perspectives that impact access and use of genetic/genomic information, technology and services.
        • ID3-3:   Identify psychosocial issues and impact of genetic/genomic information, technology and services on individual and the family.
        • ID3-4:   Use ethical principles when deliberating genetic/genomic issues of decision-making, privacy, confidentiality, informed consent, disclosure, access, and personal impact.
        • ID3-5:   List action steps to address genetic/genomic ethical issues in practice, e.g. discuss with nursing team or supervisor, present to ethics committee.
        • ID3-6:   Describe the influence of insurance or other methods of reimbursement for services on access to genetic and genomic information and technologies.
      • ID3-K2:   The components of informed decision-making
        • ID3-1:   Demonstrate the ability to assess cultural, language, family values, traditions, health beliefs and religious perspectives that influence access to and use of genetic/genomic information, technology, and services.
        • ID3-2:   Identify cultural, language, family values, traditions, health beliefs and religious perspectives that impact access and use of genetic/genomic information, technology and services.
        • ID3-3:   Identify psychosocial issues and impact of genetic/genomic information, technology and services on individual and the family.
        • ID3-4:   Use ethical principles when deliberating genetic/genomic issues of decision-making, privacy, confidentiality, informed consent, disclosure, access, and personal impact.
        • ID3-5:   List action steps to address genetic/genomic ethical issues in practice, e.g. discuss with nursing team or supervisor, present to ethics committee.
        • ID3-6:   Describe the influence of insurance or other methods of reimbursement for services on access to genetic and genomic information and technologies.
      • ID3-K3:   Sources of genetic information
        • ID3-1:   Demonstrate the ability to assess cultural, language, family values, traditions, health beliefs and religious perspectives that influence access to and use of genetic/genomic information, technology, and services.
        • ID3-2:   Identify cultural, language, family values, traditions, health beliefs and religious perspectives that impact access and use of genetic/genomic information, technology and services.
        • ID3-3:   Identify psychosocial issues and impact of genetic/genomic information, technology and services on individual and the family.
        • ID3-4:   Use ethical principles when deliberating genetic/genomic issues of decision-making, privacy, confidentiality, informed consent, disclosure, access, and personal impact.
        • ID3-5:   List action steps to address genetic/genomic ethical issues in practice, e.g. discuss with nursing team or supervisor, present to ethics committee.
        • ID3-6:   Describe the influence of insurance or other methods of reimbursement for services on access to genetic and genomic information and technologies.
      • ID3-K4:   Capabilities and limitations of current genetic/genomic technologies
        • ID3-1:   Demonstrate the ability to assess cultural, language, family values, traditions, health beliefs and religious perspectives that influence access to and use of genetic/genomic information, technology, and services.
        • ID3-2:   Identify cultural, language, family values, traditions, health beliefs and religious perspectives that impact access and use of genetic/genomic information, technology and services.
        • ID3-3:   Identify psychosocial issues and impact of genetic/genomic information, technology and services on individual and the family.
        • ID3-4:   Use ethical principles when deliberating genetic/genomic issues of decision-making, privacy, confidentiality, informed consent, disclosure, access, and personal impact.
        • ID3-5:   List action steps to address genetic/genomic ethical issues in practice, e.g. discuss with nursing team or supervisor, present to ethics committee.
        • ID3-6:   Describe the influence of insurance or other methods of reimbursement for services on access to genetic and genomic information and technologies.
      • ID3-K5:   Ethical issues related to genetic/genomic information and technology
        • ID3-1:   Demonstrate the ability to assess cultural, language, family values, traditions, health beliefs and religious perspectives that influence access to and use of genetic/genomic information, technology, and services.
        • ID3-2:   Identify cultural, language, family values, traditions, health beliefs and religious perspectives that impact access and use of genetic/genomic information, technology and services.
        • ID3-3:   Identify psychosocial issues and impact of genetic/genomic information, technology and services on individual and the family.
        • ID3-4:   Use ethical principles when deliberating genetic/genomic issues of decision-making, privacy, confidentiality, informed consent, disclosure, access, and personal impact.
        • ID3-5:   List action steps to address genetic/genomic ethical issues in practice, e.g. discuss with nursing team or supervisor, present to ethics committee.
        • ID3-6:   Describe the influence of insurance or other methods of reimbursement for services on access to genetic and genomic information and technologies.
      • ID3-K6:   Psychosocial issues and impact of genetic/genomic information
        • ID3-1:   Demonstrate the ability to assess cultural, language, family values, traditions, health beliefs and religious perspectives that influence access to and use of genetic/genomic information, technology, and services.
        • ID3-2:   Identify cultural, language, family values, traditions, health beliefs and religious perspectives that impact access and use of genetic/genomic information, technology and services.
        • ID3-3:   Identify psychosocial issues and impact of genetic/genomic information, technology and services on individual and the family.
        • ID3-4:   Use ethical principles when deliberating genetic/genomic issues of decision-making, privacy, confidentiality, informed consent, disclosure, access, and personal impact.
        • ID3-5:   List action steps to address genetic/genomic ethical issues in practice, e.g. discuss with nursing team or supervisor, present to ethics committee.
        • ID3-6:   Describe the influence of insurance or other methods of reimbursement for services on access to genetic and genomic information and technologies.
      • ID3-K7:   Current state, federal, and military policies
        • ID3-1:   Demonstrate the ability to assess cultural, language, family values, traditions, health beliefs and religious perspectives that influence access to and use of genetic/genomic information, technology, and services.
        • ID3-2:   Identify cultural, language, family values, traditions, health beliefs and religious perspectives that impact access and use of genetic/genomic information, technology and services.
        • ID3-3:   Identify psychosocial issues and impact of genetic/genomic information, technology and services on individual and the family.
        • ID3-4:   Use ethical principles when deliberating genetic/genomic issues of decision-making, privacy, confidentiality, informed consent, disclosure, access, and personal impact.
        • ID3-5:   List action steps to address genetic/genomic ethical issues in practice, e.g. discuss with nursing team or supervisor, present to ethics committee.
        • ID3-6:   Describe the influence of insurance or other methods of reimbursement for services on access to genetic and genomic information and technologies.
  • 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.
        • RA1-1:   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
        • ID2-5:   Develop a list of contacts and resources for genetic/genomic referrals.
        • 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
        • ID2-5:   Develop a list of contacts and resources for genetic/genomic referrals.
        • 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.
  • Provision of education, care and support
    • PECS-1:   Provide clients with interpretation of genetic and genomic information
      • PECS1-K1:   Components of family history
        • PECS1-1:   Discuss factors in a family and health history that contribute to: disease susceptibility; disease characteristics, treatment, prognosis; or a genetic/genomic condition.
        • PECS1-2:   Use family history information to inform health education.
        • PECS1-3:   Discuss the role of genetic, genomic, environmental and psychosocial factors in the manifestation of disease.
        • PECS1-5:   Reinforce/clarify information provided by genetic professional to client (i.e., genetic test interpretation; informed consent).
      • PECS1-K2:   Inheritance Patterns
        • PECS1-1:   Discuss factors in a family and health history that contribute to: disease susceptibility; disease characteristics, treatment, prognosis; or a genetic/genomic condition.
        • PECS1-2:   Use family history information to inform health education.
        • PECS1-3:   Discuss the role of genetic, genomic, environmental and psychosocial factors in the manifestation of disease.
        • PECS1-5:   Reinforce/clarify information provided by genetic professional to client (i.e., genetic test interpretation; informed consent).
      • PECS1-K3:   Role of environmental and psychosocial factors
        • PECS1-1:   Discuss factors in a family and health history that contribute to: disease susceptibility; disease characteristics, treatment, prognosis; or a genetic/genomic condition.
        • PECS1-2:   Use family history information to inform health education.
        • PECS1-3:   Discuss the role of genetic, genomic, environmental and psychosocial factors in the manifestation of disease.
        • PECS1-5:   Reinforce/clarify information provided by genetic professional to client (i.e., genetic test interpretation; informed consent).
      • PECS1-K4:   Informed consent procedures and essential elements
        • PECS1-1:   Discuss factors in a family and health history that contribute to: disease susceptibility; disease characteristics, treatment, prognosis; or a genetic/genomic condition.
        • PECS1-2:   Use family history information to inform health education.
        • PECS1-3:   Discuss the role of genetic, genomic, environmental and psychosocial factors in the manifestation of disease.
        • PECS1-5:   Reinforce/clarify information provided by genetic professional to client (i.e., genetic test interpretation; informed consent).
    • 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.
        • PECS2-1:   Evaluate strengths, limitations, and best use of one genetic and/or genomic resource for a client or group of clients.
        • PECS2-2:   Help clients interpret and understand genetic and genomic information.
      • 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.
        • PECS2-1:   Evaluate strengths, limitations, and best use of one genetic and/or genomic resource for a client or group of clients.
        • PECS2-2:   Help clients interpret and understand genetic and genomic information.
      • PECS2-K3:   Roles of genetic/genomic health care professionals
        • ID2-5:   Develop a list of contacts and resources for genetic/genomic referrals.
        • PECS2-1:   Evaluate strengths, limitations, and best use of one genetic and/or genomic resource for a client or group of clients.
        • PECS2-2:   Help clients interpret and understand genetic and genomic information.
    • PECS-3a:   Use health promotion/disease prevention practices that consider genetic and genomic influences
      • PECS3-K1:   Role of environmental and psychosocial factors
        • NA1-7:   Incorporate genetic and genomic health assessment data into routinely collected biopsychosocial and environmental assessments of health and illness parameters in client, using culturally sensitive approaches.
      • PECS3-K2:   Fundamentals of epidemiology and biostatistics
        • NA1-7:   Incorporate genetic and genomic health assessment data into routinely collected biopsychosocial and environmental assessments of health and illness parameters in client, using culturally sensitive approaches.
      • PECS3-K3:   Ongoing research contributing to improved understanding of the genetic/genomic influences on health
        • NA1-7:   Incorporate genetic and genomic health assessment data into routinely collected biopsychosocial and environmental assessments of health and illness parameters in client, using culturally sensitive approaches.
    • PECS-3b:   Use health promotion/disease prevention practices incorporating knowledge of genetic and/or genomic risk factors
      • NA1-7:   Incorporate genetic and genomic health assessment data into routinely collected biopsychosocial and environmental assessments of health and illness parameters in client, using culturally sensitive approaches.

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-FH1G:   Interprofessional Collaboration
      • 1G1:   Make appropriate referrals for specialty evaluation based on results of family history
  • 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

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.
    • 6:   Demonstrate the skills necessary to successfully manage a genetic counseling case.
      • 6a:   Develop and execute a case management plan that includes case preparation and follow-up.
      • 6b:   Assess and modify the case management plan as needed to incorporate changes in management and surveillance recommendations.
      • 6c:   Document and present the genetic counseling encounter information clearly and concisely, orally and in writing, in a manner that is understandable to the audience and in accordance with professional and institutional guidelines and standards.
      • 6d:   Identify and introduce research options when indicated and requested in compliance with applicable privacy, human subjects, regional and institutional standards.
      • 6e:   Identify, access and present information to clients on local, regional, national and international resources, services and support.
  • Education
    • 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.