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Mitochondrial DNA mutation A1555G and aminoglycoside-induced hearing loss and deafness

Case study created by the Inter-Society Coordinating Committee (ISCC) Case Studies Working Group (https://www.genome.gov/Pages/Research/ResearchFunding/DGM/Aminoglycoside-mtDNA_Testing_Use_Case_11-6-2014.pdf) in collaboration with American Academy of Pediatrics and the American Academy of Otolaryngology-Head and Neck Surgery.

Type of Case Study: Gene-Based Intervention for Aminoglycoside Sensitivity Pharmacogenomics/Family History.

Clinicians often best understand the value of new information in context through case-based learning. The genetic and genomic case studies represent examples of scenarios physicians are likely to encounter in practice. These cases are designed to present pertinent information, highlight decision points, provide background content about why certain decisions are appropriate, and link to the evidence base of knowledge and guidelines currently available. They incorporate competencies and entrustable professional activities identified by the ISCC's Competency Working Group.

Type Other
CME Available No
Topic Genetic Conditions
Cost Free
Note

The genetic and genomic case studies created by the ISCC Case Studies Working Group members represent examples of scenarios physicians are likely to encounter in practice.
Date of Resource 2017

Genomic Competencies

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

Pharmacist

Pharmacist Map Reference

  • 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 in drug literature evaluation
  • 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)
  • Pharmacogenetics/Pharmacogenomics
    • P1:   To demonstrate an understanding of how genetic variation in a large number of proteins, including drug transporters, drug metabolizing enzymes, direct protein targets of drugs, and other proteins (e.g. signal transduction proteins) influence pharmacokinetics and pharmacodynamics related to pharmacologic effect and drug response

Physician Assistant

Physician Assistant Map Reference

  • Patient Care
    • 2:   Identify patients who would benefit from referral to genetics professionals
    • 4:   Incorporate genetic tests into patient management
    • 5:   Discuss the range of genetic and genomic-based approaches to the treatment of disease.

Nurse

Nurse Map Reference

  • Professional Responsibilities
    • 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.
  • 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-2:   Demonstrate ability to elicit three-generation family health history information
      • NA2-K1:   Components of family history needed
        • NA2-1:   Demonstrate ability to elicit a complete three-generation family health history.
        • NA2-2:   Identify available family history tools to facilitate collection of family health history information.
    • NA-3:   Construct a pedigree from collected family history
      • NA3-K1:   Components of family history needed to identify disease susceptibility or genetic/genomic condition
        • NA2-1:   Demonstrate ability to elicit a complete three-generation family health history.
        • NA3-1:   Construct a pedigree from collected family history information using standardized symbols and terminology.
        • NA3-2:   Identify available family history tools to generate and document a pedigree, e.g. Surgeon General's Family Health Portrait.
    • NA-4:   Collect histories that consider genetic, environmental, and genomic influences and risks
      • NA4-K1:   Fundamentals of genetic and genomic focused health assessment
        • NA4-1:   Demonstrate ability to collect personal, medical and family history that includes genetic/genomic as well as environmental risks.
      • NA4-K2:   Basics of risk factors
        • NA4-1:   Demonstrate ability to collect personal, medical and family history that includes genetic/genomic as well as environmental risks.
    • 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-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.
  • 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-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

Physician Map Reference

  • 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
  • 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

Genetic Counselor

Genetic Counselor Map Reference

  • Genetics Expertise and Analysis
    • 3:   Construct relevant, targeted and comprehensive personal and family histories and pedigrees.
      • 3a:   Demonstrate proficiency in the use of pedigree symbols, standard notation, and nomenclature.
      • 3b:   Utilize interviewing skills to elicit a family history and pursue a relevant path of inquiry.
      • 3c:   Use active listening skills to formulate structured questions for the individual case depending on the reason for taking the family history and/or potential diagnoses.
      • 3d:   Elicit and assess pertinent information relating to medical, developmental, pregnancy and psychosocial histories.
      • 3e:   Extract pertinent information from available medical records.
    • 4:   Identify, assess, facilitate, and integrate genetic testing options in genetic counseling practice.
      • 4a:   Investigate the availability, analytic validity, clinical validity, and clinical utility of screening, diagnostic and predictive genetic/genomic tests.
      • 4b:   Evaluate and assess laboratories and select the most appropriate laboratory and test based on the clinical situation.
      • 4c:   Identify and discuss the potential benefits, risks, limitations and costs of genetic testing.
      • 4d:   Coordinate and facilitate the ordering of appropriate genetic testing for the client.
      • 4e:   Interpret the clinical implications of genetic test reports.
      • 4f:   Recognize and differentiate specific considerations relevant to genetic versus genomic and clinical versus research testing in terms of the informed consent process, results disclosure, institutional review board (IRB) guidelines, and clinical decision-making.

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