Searchable abstracts of presentations at key conferences in endocrinology
Endocrine Abstracts (2009) 19 P98

SFEBES2009 Poster Presentations Clinical practice/governance and case reports (87 abstracts)

Endocrine genes – have we improved the fit? (project development to service provision)

S Stewart 1,2 , N Gittoes 2 & T Cole 1,2

1West Midlands Regional Clinical Genetic Unit, Birmingham Women’s Health Care Trust, Birmingham, West midlands, UK; 2University Hospital Birmingham NHS Trust, Birmingham, West Midlands, UK.

In 2006, responding to the Government White Paper, ‘Our future, our inheritance’, a project commenced promoting genetics in mainstream medicine.

By 2008, the original project framework has evolved to address logistical constraints, patient preference and cost effectiveness, offering a streamlined service for clients with inherited endocrine disorders. Recognised patient pathways and a dedicated endocrine genetic clinical nurse specialist (EGCNS) are keys for transition from project development to service provision.

So far, we have investigated/ counselled 331 patients. Initial contact is by specialist nurse telephone clinics (337), and family history questionnaires in large complicated families. These are preferable over nurse led clinics (87), for patients with young families, the elderly and working. Endocrine expertise and counselling skills, by EGCNS, are essential for an accurate, detailed family history and to provide unbiased, non-judgemental information about the possible inherited condition. Referrals to the multidisciplinary endocrine genetic clinic service (MDEGC) are reviewed by a clinical geneticist and/or endocrinologist, and an appointment offered in 1 of 5 subtype clinics. At risk relatives are offered an appointment following GP referral. Clinic frequency is tailored to balance demand and referral to treatment (RTT) targets. The need for target exemption for specialised clinics is recognised and currently under review.

Written leaflets/ support group information are provided, although availability limited for rarer conditions. Presently, we do not provide foreign language information but use interpreters, English speaking relatives or departmental colleagues. Patient confidentiality, sensitivity to family dynamics is a major patient concern so family information is recorded only in the genetic file and relatives are never approached directly. Patients have phone/ email contact for the EGCNS and are encouraged to re -contact us as family dynamics change.

Through our evolved practice, we now provide a highly specialised and valued endocrine genetic service, within the Region, which is under regular performance review.

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