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Advancements in genetic testing to identify predisposition for hereditary breast cancer (HBC) mean that it is important to understand the incremental costs and benefits of the new technologies compared with current testing strategies. This study aimed to (1) identify and critically appraise existing economic evidence for BRCA1/2 mutation testing for HBC and (2) establish whether economic evidence was used to inform national guidance in England and Wales. A telephone interview with diagnostic laboratories (n=14) offering BRCA1/2 mutation testing identified that 9 (64%) used Sanger DNA sequencing with multiplex ligation-dependent probe amplification and two offered next generation sequencing. A systematic review identified 15 economic studies that evaluated: genetic testing for HBC (5 studies); preventive management options for women at risk of HBC (8 studies); and different laboratory approaches for BRCA1 testing (2 studies). These evaluations were not relevant to U.K. practice, and therefore the development of national guidance using a risk threshold to trigger BRCA1/2 testing has not been informed by existing economic evidence. The lack of economic evidence supporting the current risk threshold for national guidance has implications for the efficient use of healthcare resources and the design of economic evaluations of new technologies for BRCA1/2 testing.

Aim: For certain drugs, pharmacogenetic tests can reduce adverse drug reactions and improve treatment efficacy. However, the adoption of pharmacogenetics into clinical practice has been relatively slow. One potential barrier is the capacity of laboratories to meet the demands of a clinical pharmacogenetic service. We aimed to establish the range, capacity to deliver, and demand for germline pharmacogenetic testing in the United Kingdom and Ireland, through an e-survey of 34 molecular genetics and 28 histocompatibility and immunogenetics (H&I) laboratories., Results: Thirty-five percent of molecular genetics laboratories and 54% of H&I laboratories responded to the survey. The majority of H&I laboratories (93%) offered pharmacogenetic testing, whereas only one molecular genetics laboratory provided a pharmacogenetic service. HLA-B*5701 was most commonly tested to identify those at risk of abacavir hypersensitivity among patients with HIV. A number of barriers to testing were identified, including lack of clinician knowledge and a lack of scientific evidence. All molecular genetics laboratories believed that national coordination of clinical pharmacogenetic services was required, whereas only 50% of H&I laboratories supported this view., Conclusions: In the United Kingdom, pharmacogenetic testing is currently being predominantly provided through H&I laboratories for a limited number of indications. The number of laboratories offering pharmacogenetic tests is increasing and is likely to continue to increase over the coming years.