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

28 May 2020
17 min read
Volume 29 · Issue 10


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.

While 90% of breast cancers occur as a result of an accumulation of somatic genetic changes, approximately 5–10% are believed to originate from inherited germline genetic variations. These cancers are most likely to be pathogenic variants in tumour suppressor genes such as the breast cancer susceptibility genes BRCA1 and BRCA2 (Brody and Biesecker, 1998; Alberg et al, 1999; Eccles and Pichert, 2005; Zhang and Powell, 2005). BRCA1 was mapped on chromosome 17 in 1990 (Hall et al, 1990) and subsequently cloned in 1994 (Miki et al, 1994) and BRCA2 was mapped on chromosome 13 in 1995 (Wooster et al, 1995).

Pathogenic variants in other genes, including ATM, BARD1, BRIP1, CDH1, CHEK2, MRE11A, MSH6, NBN, PALB2, PMS2, PTEN, RAD50, RAD51C, STK11 and TP53 are now also known to increase the risk of breast cancer, but research continues into the penetrance and overall risks associated with these genetic variants (Wang et al, 2018).

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