Utilizing family history to identify Lynch Syndrome

Case study created by the Inter-Society Coordinating Committee (ISCC) Case Studies Working Group (https://www.genome.gov/27560578/iscc-case-studies-working-group-case-studies/iscc-case-studies-working-group-case-studies/) in collaboration with the National Cancer Institute. 

Type of Case Study: 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
Cost Free
Note



Genomic Competencies

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

Physician Assistant

  • 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.

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
  • 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

  • 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.