Advances in genomic technology and the launch of the NHS Genomic Medicine Service (GMS) in 2018 have firmly embedded genomic testing within routine clinical care. As the gateway to the NHS, primary care practitioners will be managing increasing numbers of patients who are eligible for genomic testing, or who present with their own, or a family member’s genomic test result. This article provides an overview of recent developments in the field of genomics, explains key concepts and terminology, and details the current organisation of the genomics services under the GMS. It also discusses some common presentations within primary care to highlight the relevance of genomics to frontline GPs.
BejjaniBAShafferLG, et al. (2006) Application of array-based comparative genomic hybridization to clinical diagnostics. Journal of Molecular Diagnostics8(5): 528–533. DOI: 10.2353/jmoldx.2006.060029.
Food and Drug Administration (2019) Table of pharmacogenomic biomarkers in drug labeling. Available at: www.fda.gov/media/124784/download (accessed 01 March 2020).
HallMJReidJEBurbidgeLA, et al. (2009) BRCA1 and BRCA2 mutations in women of different ethnicities undergoing testing for hereditary breast-ovarian cancer. Cancer115(10): 2222–2233. DOI: 10.1002/cncr.24200.
8.
IGSR: The International Genome Sample Resource (2020) IGSR and the 1000 genomes project. Available at: www.internationalgenome.org/ (accessed 01 March 2020).
KuchenbaeckerKBHopperJLBarnesDR, et al. (2017) Risks of breast, ovarian, and contralateral breast cancer for BRCA1 and BRCA2 mutation carriers. JAMA317(23): 2402–2416. DOI: 10.1001/jama.2017.7112.
11.
Marfan Foundation (2014) Marfan and related conditions: What are the signs? Available at: www.marfan.org/about/signs (accessed 01 March 2020).
12.
Mendelian (2020) Mendelian for physicians. Available at: www.mendelian.co/ (accessed 01 March 2020).
13.
National Human Genome Research Institute (2013) The human genome project. Available at: www.genome.gov/human-genome-project (accessed March 2020).
NICE (2019a) Familial breast cancer: Classification, care and managing breast cancer and related risks in people with a family history of breast cancer. Available at: www.nice.org.uk/Guidance/CG164 (accessed 15 March 2020).
RestaRBeiseckerBBennetR, et al. (2006) A new definition of genetic counseling: National Society of Genetic Counselors’ task force report. Journal of Genetic Counseling15(2): 77–83. DOI: 10.1007/s10897-005-9014-3.
23.
SunYRuivenkampCAVrijenhoekT, et al. (2015) Next-generation diagnostics: Gene panel, exome, or whole genome?Human Mutation36(6): 648–655. DOI: 10.1002/humu.22783.
24.
UBQO. Cancer genetics (2016). Hereditary cancer risk assessment and referral guidance for clinicians. Available at: www.ubqo.com/cancergenetics (accessed 05 March 2020).
