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Genetics – Referral Pathway in Primary Care

Genetics – Referral Pathway in Primary Care. Khawer Ayoub GPST1 2012. Clinical Genetics. Medical specialty that provides a diagnostic service and genetic counselling for individual or families with, or at risk of, conditions with a genetic basis

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Genetics – Referral Pathway in Primary Care

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  1. Genetics – Referral Pathway in Primary Care Khawer Ayoub GPST1 2012

  2. Clinical Genetics • Medical specialty that provides a diagnostic service and genetic counselling for individual or families with, or at risk of, conditions with a genetic basis • Aim of genetics service is to help those affected by, or at risk of, a genetic condition to live and reproduce as normally as possible

  3. Genetic Services • Diagnosis of genetic disease • Carrier testing for individuals at high risk of genetic disease • Pre-symptomatic diagnosis of inherited adult onset • Pre-natal diagnosis

  4. Main role of Primary Care Team • Identifying patients and families who would benefit from being referred to the genetic services • Management and support of families affected by genetic conditions • Considering family history in multi-factorial disease, e.g. Cancer

  5. Referral to YGS • In writing (can be found on C&B): Yorkshire Regional Genetics Service 3rd Floor Chapel Allerton Hospital Chapeltown Road Leeds LS7 4SA • Via fax if urgent: 0113 3924434

  6. Referral to YGS • Can seek advice from GPwSI in Genetics, or on-call Genetics Dr. via LGI switchboard • Essential information: • Full patient details including NHS number • Telephone contact number for pregnant patients • Clinical details and copies of helpful clinical letters/results • Relevant family history

  7. Referral to YGS • Additional helpful information: • Patient contact telephone number (if possible) • Name and DOB of affected relatives (especially if living in Y&H area) • Preferred clinic location (due to specialist nature of clinics, it may not always be possible for patients to be seen in the nearest hospital)

  8. Once Referral Received • Questionnaire sent out by family history administrators and returned by patient • Consultants review referral and FH • Triage to Genetic Counsellor / Consultant • Often initial contact with Genetic Counsellor • Several more contacts as appropriate • Appropriate management initiated • Follow-up

  9. Thank You

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