Changing practice: moving to a specialist nurse-led service for BRCA gene testing.

Some 5-10% of all breast cancers are associated with a pathogenic variant in a breast cancer-associated gene (BRCA1/BRCA2). Historically, with referral to the Nottingham University Hospitals NHS Trust's clinical genetics department for genetic testing, waiting times were on average 12-14 weeks for an initial appointment and 4-6 months to obtain results from the date of testing. A specialist, nurse-led mainstreaming cancer genetics (MCG) service was set up in the trust's Nottingham Breast Institute (NBI) to: reduce waiting times for the initial consultation, counselling, consent and obtaining results for BRCA1/BRCA2 gene testing; and to ensure appropriate patients with breast cancer were offered genetic testing. Two breast clinical nurse specialists were trained so they could counsel, consent and give results for the BRCA1/BRCA2 gene testing directly to patients. Average waiting times for results from the time of testing were reduced to 35.8 days under the nurse-led service, which enabled oncologists and patients to consider individual treatment options at an earlier time. The MCG service reduced waiting times, resulting in an improved, more streamlined service for patients undergoing genetic testing. The MCG service extended the scope of practice of the breast nurse clinical specialists, embedded an expert advanced nursing role in the breast multidisciplinary team and developed nurse mentoring opportunities.

Congenital adrenal hyperplasia due to 21-hydroxylase deficiency is associated with a prolonged gestational age.

BACKGROUND: The timing of parturition in most mammals is thought to be linked to a late gestational rise in corticosteroid production by the fetal adrenal gland. We hypothesised that gestational age would be prolonged in our patients with impaired cortisol production secondary to congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency. METHODS: We compared the gestational age of patients affected by salt-wasting CAH due to 21-hydroxylase deficiency (born 1978-2004; n = 31) with that of children with congenital hypothyroidism (born 1981-2003; n = 30) and a control group of short normal children (born 1980-2002; n = 120). Each group was compared with national (England 2002-3) and regional (2003-4) data on gestational age from hospital episode statistics. Post-term delivery was defined as birth beyond 41 completed weeks. RESULTS: National statistics reveal a frequency of 4.4% for singleton deliveries beyond 41 weeks. In our region the frequency was 4.6%. In the group of children with CAH, the frequency of post-term delivery was 19.3% (p<0.001). In patients with congenital hypothyroidism, the frequency was 13.3% (p = 0.02). The proportion of short children who did not have a recognised endocrinopathy born post term was comparable to national and regional data at 6.7%. CONCLUSIONS: A prolonged gestation is more likely in pregnancies where the fetus has the salt-wasting form of CAH. This may be due to impaired cortisol production, although other changes in steroidogenesis may also be contributory.