Genomic Medicine Service and impact on genetic testing and consent
| Scenario | Plan for the Genomic Medicine Service |
|---|---|
| Medical diagnosis is clear and there is a suspected genetic aetiology seen by a medical specialist (in some complex dysmorphology settings, clinical genetics will still see the patient first) | Mainstreamed constitutional genetic testing by medical specialty with referral to clinical genetics if a family history is also present or a significant variant identified. |
| Patient with cancer | Reflex somatic (tumour) testing for treatment with referral to clinical genetics if a family history is also present or a somatic variant identified which could indicate underlying inherited cancer predisposition gene. Mainstreamed constitutional genetic testing by cancer team (oncology/surgery) with referral to clinical genetics if a family history is also present or a significant variant identified. |
| At risk relatives with a family history but no mutation known to be present | Seen by clinical genetics with increasing use of risk modelling involving clinical and genomic data. |
| Known mutation in the family | Direct referral to clinical genetics for predictive testing. |