Gen-Equip Project: curriculum in genetics and genomics for primary care professionals in Europe.
Introduction
This curriculum has been prepared as part of the Gen-Equip project to provide genetics education for primary care professionals. The topics were developed by the project team. First, a systematic review of the relevant literature was conducted to ascertain educational needs of primary care professionals. The curriculum was then developed at a workshop attended by experts in primary care, health education and clinical genetics.
The project team see this curriculum as a dynamic tool on which to base the educational programme, however with changes in both genetics and primary care, it should be scrutinised regularly and amended as required to meet the needs of primary care practitioners. We therefore welcome comments or suggestions, which should be directed to Heather Skirton (heather.skirton@plymouth.ac.uk).
| 1. Core topics | |
| Topics | Details |
| Why is genetics relevant to primary care professionals? | Why genetics and genomics is relevant to primary care. Types of cases with a genetic or genomic component that are commonly seen inprimary care. |
| Family history | Definition of first and second degree relativesReasons for collecting family history Important aspects of family medical history Interpretation of family medical historyAccurate recording and updating of family medical history
Drawing a family tree Example questions for obtaining correct information. |
| ‘Red flags’ when taking the family history | Indications that the condition in the family could have agenetic cause, e.g. younger age of onset than usual, cases of bilateral disease. |
| What genetic services do | Family and medical history taking, examination, assessment of risk, diagnosisTypes of testing used, including diagnostic, presymptomatic testing, carrier testing and prenatal diagnosis. |
| Indications for referral to genetic services | Use of national guidelines for referral to genetic services. |
| How to refer to genetic services | Use of national information on genetic services. |
| Talking to patients about results | Possible types of genetic test results; positive, negative, variants of unknown significanceInformation that should be included when discussing results. |
| Ethical and social issues in primary care genetics | ConfidentialityDisclosure of information to relatives/health professionalsConsanguinity
Prenatal testing Possible termination of pregnancy Impact of diagnosis or test results on mortgage or life insurance. |
| Basic genetic information and inheritance patterns | Mutations in DNAChromosomal abnormalities – including aneuploidyMendelian patterns of inheritance
Mitochondrial inheritance Multi-factorial conditions. |
| 2. Targeted topics | |
| Prenatal genetic care | Family history and risks from genetic conditions in the motherRisks of genetic conditions to the fetus Understanding and communicating risks Use of folic acid in pregnancyPrescribed medication in pregnancy. |
| Preconception care | Screening programs for genetic conditionsReferral pathway for genetic assessment and/or testingPrenatal genetic testing
Methods of collecting samples, Family history taking and interpretation Role of ethnicity in assessing genetic risk Consanguinity Use of folic acid Lifestyle issues, including smoking and alcohol use Prescribed medication and their impact on the fetus. |
| Paediatric care | Diagnosis of pediatrics conditionsUse of new technologies to find diagnosisRecurrence risks for further children. |
| Adult Cancer | Concept of cancer as always due to genetic changesbut inherited forms high riskPopulation risks
Use of up-to-date family history More detailed information about: · Hereditary breast and ovarian cancer · Familial colon cancer (including Lynch syndrome) · Rare cancer syndromes |
| Red flags – suspicion checklist | |
| Algorithms to assess risk for referral decisionsReferral pathway to cancer family history clinics or genetic clinics in your countryWhy patient with a family history may not be referred for genetic testing
Understanding and communicating risks |
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| Algorithms to assess risk for referral decisionsReferral pathway to cancer family history clinics or genetic clinics in your countryWhy patient with a family history may not be referred for genetic testing
Understanding and communicating risks. |
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| Use of personalized medicine to target treatment. | |
| Adult Cardiovascular | Inherited forms of common diseases, including arrhythmias, cardiomyopathy, familial hypercholesterolemia.Need to take family history (including after sudden cardiac death) and ensure it is up to date |
| Population riskAlgorithms to assess risk for referral decisions Referral pathway in your country Understanding and communicating risksUnderstanding test results including known mutation, no mutation, variants of unknown significance |
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| Screening and preventive optionsChanging knowledge and management – need for review of casePersonalized medicine to target treatment. | |
| Pharmacogenomics | Explanation of pharmacogenomicsExamples of useful applications in primary care (e.g. testing for statin sensitivity, avoiding iron therapy for thalassemia carriers)Examples of applications in cancer treatment. |
| Genomics | Predictive value of tests, especially for common conditionsUse of whole exome sequencing and whole genome sequencingAs situation is rapidly changing, need to ensure evidence for use of test, e.g. for use of NIPT. |