{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T01:42:00Z","timestamp":1791423720480,"version":"4.3.3"},"reference-count":30,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2021,10,1]],"date-time":"2021-10-01T00:00:00Z","timestamp":1633046400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Endocrinology"],"published-print":{"date-parts":[[2022,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Rapid advances in sequencing technology have led to significant improvements in genomic analysis, resulting in increased understanding of the molecular basis of many endocrine conditions. Genomic testing for rare disease is being integrated into everyday clinical practice, as the importance of confirming a genetic diagnosis earlier in a patient's pathway helps direct their clinical care and specialized management. In England, the new nationally commissioned Genomic Medicine Service has started to deliver testing for rare and inherited disease and cancer somatic tissue via seven Genomic Laboratory Hubs. The range of genetic tests, technology employed and eligibility criteria for patient testing are all defined in the National Genomic Test Directory. This review provides practical guidance on how to access genomic testing for endocrine disease, how to interpret and relay results, and details how genetic counselling can help integrate results into ongoing care of the individual and their family. This article discusses general principles as well as specifics related to the process of genomic testing in England. We illustrate mainstream genetic testing with a clinical scenario involving an individual with inherited endocrine neoplasia, followed by a generic description of the different steps involved, including informed consent to proceed to diagnostic testing. Most genetic tests analyse multiple genes simultaneously by next\u2010generation sequencing, and variant interpretation may yield not only pathogenic explanatory results, but also ambiguous outcomes, with variants of unknown significance or incidental findings. Delivery of results and posttest genetic counselling are therefore key components of integrating genetic testing into routine endocrine care.<\/jats:p>","DOI":"10.1111\/cen.14596","type":"journal-article","created":{"date-parts":[[2021,9,16]],"date-time":"2021-09-16T11:21:59Z","timestamp":1631791319000},"page":"388-399","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["A practical guide to genetic testing in endocrinology"],"prefix":"10.1111","volume":"97","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1258-4843","authenticated-orcid":false,"given":"Louise","family":"Izatt","sequence":"first","affiliation":[{"name":"Department of Clinical Genetics Guy's and St Thomas\u2019 NHS Foundation Trust  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martina M.","family":"Owens","sequence":"additional","affiliation":[{"name":"Exeter Genomics Laboratory, South West Genomic Laboratory Hub Royal Devon and Exeter NHS Foundation Trust  Exeter UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heather","family":"Pierce","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Cambridge University Hospital NHS Foundation Trust  Cambridge UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah","family":"Wilcox","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Cambridge University Hospital NHS Foundation Trust  Cambridge UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0538-4547","authenticated-orcid":false,"given":"Soo\u2010Mi","family":"Park","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Cambridge University Hospital NHS Foundation Trust  Cambridge UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2021,10]]},"reference":[{"key":"e_1_2_7_2_1","unstructured":"Department of Health. The UK strategy for rare diseases.2013. Accessed June 28 2021.https:\/\/assets.publishing.service.gov.uk\/government\/uploads\/system\/uploads\/attachment_data\/file\/260562\/UK_Strategy_for_Rare_Diseases.pdf"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.7861\/clinmedicine.17-6-545"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.7861\/clinmedicine.19-4-273"},{"key":"e_1_2_7_5_1","unstructured":"\u00a9NHS in England.\u00a0National Genomic Test Directory for rare and inherited disease. November 16 2020. Accessed July 17 2021.\u00a0https:\/\/www.england.nhs.uk\/publication\/national-genomic-test-directories"},{"key":"e_1_2_7_6_1","unstructured":"\u00a9NHS in England.\u00a0National Genomic Test Directory for rare and inherited disease eligibility criteria. November 16 2020. Accessed June 28 2021.\u00a0https:\/\/www.england.nhs.uk\/wp-content\/uploads\/2018\/08\/Rare-and-Inherited-Disease-Eligibility-Criteria-November-2020-21.pdf"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.03.010"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-020-2308-7"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkx1153"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1210\/jcem.87.6.8607"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMsr1406261"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkaa1043"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1210\/er.2012-1013"},{"key":"e_1_2_7_15_1","unstructured":"\u00a92016 HEE Genomics Education ProgrammeFamily History worksheet. 2016. Accessed June 28 2021.https:\/\/www.genomicseducation.hee.nhs.uk\/wp-content\/uploads\/2019\/05\/Family-history-worksheet-blank.pdf"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21170"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1111\/cen.14053"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-020-01420-w"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12020-021-02636-x"},{"key":"e_1_2_7_20_1","unstructured":"\u00a92020 HEE Genomics Education ProgrammeClinician's guide for whole genome sequencing: rare disease. 2020. Accessed June 28 2021.https:\/\/www.genomicseducation.hee.nhs.uk\/wp-content\/uploads\/2019\/11\/Guide-to-requesting-WGS-RD-Nov-20.pdf"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41588-019-0528-2"},{"key":"e_1_2_7_22_1","unstructured":"\u00a9 NHS in England 2020NHS Genomic Medicine Service (GMS) Signed off panels resource. 2021. Accessed July 18 2021.https:\/\/nhsgms-panelapp.genomicsengland.co.uk\/panels"},{"key":"e_1_2_7_23_1","unstructured":"\u00a9 NHS in England 2020. NHS Genomic Medicine Service (GMS) Signed off panels resource. 2021. Accessed July 18 2021.https:\/\/nhsgms-panelapp.genomicsengland.co.uk\/entities"},{"key":"e_1_2_7_24_1","unstructured":"\u00a9 NHS in England 2020National Genomic Test Directory for cancer. 2020. Accessed June 28 2021.https:\/\/www.england.nhs.uk\/wp-content\/uploads\/2018\/08\/National-Genomic-Test-Directory-Cancer-November-2020-21.xlsx"},{"key":"e_1_2_7_25_1","doi-asserted-by":"publisher","DOI":"10.1177\/2515841420954592"},{"key":"e_1_2_7_26_1","unstructured":"CaulfieldM. The National Genomic Research Library v5.1 Genomics England 2020. Accessed June 28 2021.https:\/\/www.genomicsengland.co.uk\/national-genomic-research-library\/"},{"key":"e_1_2_7_27_1","unstructured":"EllardS BapleE CallawayA et al. ACGS Best practice guidelines for variant classification in rare disease. 2020. Accessed June 28 2021.https:\/\/www.acgs.uk.com\/media\/11631\/uk-practice-guidelines-for-variant-classification-v4-01-2020.pdf"},{"key":"e_1_2_7_28_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-019-0686-8"},{"key":"e_1_2_7_29_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22981"},{"key":"e_1_2_7_30_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10897-017-0067-x"},{"key":"e_1_2_7_31_1","unstructured":"Royal College of Physicians Royal College of Pathologists and British Society for Genetic Medicine.Consent and Confidentiality in Genomic Medicine: Guidance on the Use of Genetic and Genomic Information in the Clinic. 3rd ed. Report of the Joint Committee on Genomics in Medicine. RCP RCPath and BSGM; 2019."}],"container-title":["Clinical Endocrinology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cen.14596","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/cen.14596","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cen.14596","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,22]],"date-time":"2023-08-22T20:31:34Z","timestamp":1692736294000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cen.14596"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,10]]},"references-count":30,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2022,10]]}},"alternative-id":["10.1111\/cen.14596"],"URL":"https:\/\/doi.org\/10.1111\/cen.14596","archive":["Portico"],"relation":{},"ISSN":["0300-0664","1365-2265"],"issn-type":[{"value":"0300-0664","type":"print"},{"value":"1365-2265","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,10]]},"assertion":[{"value":"2021-07-29","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-09-09","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-10-01","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}