Digital innovation for cancer risk assessment allows large-scale service redevelopment of regional cancer genetics service delivery.
Assessment
Cancer surveillance
Digital
Family history
Patient-facing resource
Journal
Familial cancer
ISSN: 1573-7292
Titre abrégé: Fam Cancer
Pays: Netherlands
ID NLM: 100898211
Informations de publication
Date de publication:
01 Jul 2024
01 Jul 2024
Historique:
received:
22
01
2024
accepted:
01
06
2024
medline:
2
7
2024
pubmed:
2
7
2024
entrez:
2
7
2024
Statut:
aheadofprint
Résumé
Family-history assessment can identify individuals above population-risk for cancer to enable targeted Screening, Prevention and Early Detection (SPED). The online patient-facing cancer Family History Questionnaire Service (cFHQS) is a digitalised, resource efficient tool for family history data capture to facilitate this. The capturing of digital data from cFHQS allows for data interrogation of patients referred to Clinical Genetics for the purposes of service improvement. Digital data from 4,044 cFHQS respondents over a three-year period was collected and interrogated with respect to the number and type of familial tumour diagnoses to enable service improvement and streamlining of referral pathways. 81% of colorectal and 71% of breast screening assessments were population- or moderate-risk. Most patients who completed cFHQS reported more than one diagnosis of cancer/tumour/polyps in their family. 2.5% of family history assessment patients had a second indication that required assessment that would have been missed if single tumour type assessment was undertaken. Implementation of an innovative, digital family history data collection pathway has allowed large scale interrogation of referral patterns and assessment outcomes to enable service development. The high volume of inappropriate referrals to Clinical Genetics for population and moderate risk patients highlighted the need for dedicated secondary care pathway provision for these patients. The use of cFHQS streamlined family history assessment allows for redistribution of resources to improve equity and access to genetic cancer risk assessment.
Identifiants
pubmed: 38954285
doi: 10.1007/s10689-024-00407-x
pii: 10.1007/s10689-024-00407-x
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
© 2024. The Author(s).
Références
Frank C, Fallah M, Sundquist J et al (2015) Population landscape of familial cancer. Sci Rep 5. https://doi.org/10.1038/srep12891
Yoon PW, Scheuner MT, Peterson-Oehlke KL et al (2002) Can family history be used as a tool for public health and preventive medicine? Genet Med 4:304–310. https://doi.org/10.1097/00125817-200207000-00009
doi: 10.1097/00125817-200207000-00009
pubmed: 12172397
Evans DG, Brentnall AR, Harvie M et al (2014) Breast cancer risk in young women in the national breast screening programme: implications for applying NICE guidelines for additional screening and chemoprevention. Cancer Prev Res 7:993–1001. https://doi.org/10.1158/1940-6207.CAPR-14-0037
doi: 10.1158/1940-6207.CAPR-14-0037
Dillon M, Flander L, Buchanan DD et al (2018) Family history–based colorectal cancer screening in Australia: a modelling study of the costs, benefits, and harms of different participation scenarios. PLoS Med 15. https://doi.org/10.1371/journal.pmed.1002630
Duffy SW, Vulkan D, Cuckle H et al (2020) Effect of mammographic screening from age 40 years on breast cancer mortality (UK Age trial): final results of a randomised, controlled trial. Lancet Oncol 21:1165–1172. https://doi.org/10.1016/S1470-2045(20)30398-3
doi: 10.1016/S1470-2045(20)30398-3
pubmed: 32800099
pmcid: 7491203
FH01 collaborative teams (2010) Mammographic surveillance in women younger than 50 years who have a family history of breast cancer: tumour characteristics and projected effect on mortality in the prospective, single-arm, FH01 study. Lancet Oncol 11:1127–1134. https://doi.org/10.1016/S1470-2045(10)70263-1
doi: 10.1016/S1470-2045(10)70263-1
Evans DG, Edwards M, Duffy SW et al (2020) Sporadic implementation of UK familial mammographic surveillance guidelines 15 years after original publication. Br J Cancer 122:329–332. https://doi.org/10.1038/s41416-019-0631-2
doi: 10.1038/s41416-019-0631-2
pubmed: 31761901
Bradley L, Lynch SA (2021) Dying to see you? Deaths on a clinical genetics waiting list in the Republic of Ireland; what are the consequences? https://doi.org/10.1007/s12687-020-00491-3/Published
St George’s NHS Foundation Trust Cancer Genetics: for Heath Professionals Make a referral to cancer genetics. https://www.stgeorges.nhs.uk/service/clinical-genetics/clinical-genetics/cancer-genetics-for-health-professionals/ . Accessed 28 Mar 2024
National Institute for Heath and Care Excellence (2017) Familial Breast Cancer: classification, care and managing breast cancer and related risks in people with a family history of breast cancer. https://www.nice.org.uk/guidance/cg164 . Accessed 28 Mar 2024
Monahan KJ, Bradshaw N, Dolwani S et al (2020) Guidelines for the management of hereditary colorectal cancer from the British Society of Gastroenterology (BSG)/Association of Coloproctology of Great Britain and Ireland (ACPGBI)/United Kingdom Cancer Genetics Group (UKCGG). Gut 69:411–444. https://doi.org/10.1136/gutjnl-2019-319915
doi: 10.1136/gutjnl-2019-319915
pubmed: 31780574
NHS England (2023) National Genomic Test Directory. https://www.england.nhs.uk/publication/national-genomic-test-directories/ . Accessed 7 Nov 2023
Family History Questionnaire Service FHQS (2024) https://www.fhqs.org/ . Accessed 22
Skinner WL (2019) Abstracts from the 52nd European Society of Human Genetics (ESHG) Conference: posters. Eur J Hum Genet 27:1174–1813. https://doi.org/10.1038/s41431-019-0494-2
Badran AR, Youngs A, Forman A et al (2023) Proactive familial cancer risk assessment: a service development study in UK primary care. BJGP Open 7. https://doi.org/10.3399/BJGPO.2023.0076 . :BJGPO.2023.0076
Carver T, Hartley S, Lee A et al (2021) Canrisk tool—A web interface for the prediction of breast and ovarian cancer risk and the likelihood of carrying genetic pathogenic variants. Cancer Epidemiol Biomarkers Prev 30:469–473. https://doi.org/10.1158/1055-9965.EPI-20-1319
doi: 10.1158/1055-9965.EPI-20-1319
pubmed: 33335023
Archer S, De Villiers CB, Scheibl F et al (2020) Evaluating clinician acceptability of the prototype CanRisk tool for predicting risk of breast and ovarian cancer: a multi-methods study. PLoS ONE 15. https://doi.org/10.1371/journal.pone.0229999
Lee A, Mavaddat N, Wilcox AN et al (2019) BOADICEA: a comprehensive breast cancer risk prediction model incorporating genetic and nongenetic risk factors. Genet Sci 21:1708–1718. https://doi.org/10.1038/s41436
doi: 10.1038/s41436
Office for National Statistics (2022) Ethnic group, England and Wales: Census 2021. https://www.ons.gov.uk/peoplepopulationandcommunity/culturalidentity/ethnicity/bulletins/ethnicgroupenglandandwales/census2021 . Accessed 28 Mar 2024
Office for National Statistics (2023) Gender identity, England and Wales: Census 2021. https://www.ons.gov.uk/peoplepopulationandcommunity/culturalidentity/genderidentity/bulletins/genderidentityenglandandwales/census2021 . Accessed 28 Mar 2024
Institute of Cancer Research and The Royal Marsden NHS Foundation Trust (2013) Protocol 1 Management guidelines for unaffected women with a family history of breast and/or ovarian cancer. https://www.icr.ac.uk/docs/default-source/clinical-trials/Protocols/protocol-1.pdf?sfvrsn=2 . Accessed 12 Jan 2024
Wonderling D, Hopwood P, Cull A et al (2001) A descriptive study of UK cancer genetics services: an emerging clinical response to the new genetics. Br J Cancer 85:166–170. https://doi.org/10.1054/bjoc.2001.1893
doi: 10.1054/bjoc.2001.1893
pubmed: 11461071
pmcid: 2364036
Allford A, Qureshi N, Barwell J et al (2014) What hinders minority ethnic access to cancer genetics services and what may help. Eur J Hum Genet 22:866–874. https://doi.org/10.1038/ejhg.2013.257
doi: 10.1038/ejhg.2013.257
pubmed: 24253862
Coad B, Giblin J, Walsh RJ et al (2021) Considerations in management for trans and gender diverse patients with inherited Cancer Risk. Curr Genet Med Rep 9:59–69. https://doi.org/10.1007/s40142-021-00201-6
doi: 10.1007/s40142-021-00201-6
Watson E, Austoker J, Lucassen A (2001) A study of GP referrals to a family cancer clinic for breast/ovarian cancer. Fam Pract 18:131–134. https://doi.org/10.1093/fampra/18.2.131
doi: 10.1093/fampra/18.2.131
pubmed: 11264261
Kohut K, D’Mello L, Bancroft EK et al (2012) Implications for cancer genetics practice of pro-actively assessing family history in a General Practice cohort in North West London. Fam Cancer 11:107–113. https://doi.org/10.1007/s10689-011-9482-6
doi: 10.1007/s10689-011-9482-6
pubmed: 22016143
McDonald K, Iredale R, Higgs G (2007) The geography of genetics: an analysis of referral patterns to a cancer genetics service. Genomic Med 1:129–138. https://doi.org/10.1007/s11568-008-9016-y
doi: 10.1007/s11568-008-9016-y
pubmed: 18923938
White DB, Bonham VL, Jenkins J et al (2008) Too many referrals of low-risk women for BRCA1/2 genetic services by family physicians. Cancer Epidemiol Biomarkers Prev 17:2980–2986. https://doi.org/10.1158/1055-9965.EPI-07-2879
doi: 10.1158/1055-9965.EPI-07-2879
pubmed: 18990739
pmcid: 2772063
Dineen M, Sidaway-Lee K, Pereira Gray D, Evans PH (2022) Family history recording in UK general practice: the lIFeLONG study. Fam Pract 39:610–615. https://doi.org/10.1093/fampra/cmab117
doi: 10.1093/fampra/cmab117
pubmed: 34568898
RM Partners West London Cancer Alliance (2023) RM Partners West London Cancer Alliance. https://rmpartners.nhs.uk/ . Accessed 18 Dec 2023
Surrey and Sussex Cancer Alliance Surrey and Sussex Cancer Alliance. https://surreyandsussexcanceralliance.nhs.uk/ . Accessed 18 Dec 2023
Usher-Smith JA, Hindmarch S, French DP et al (2023) Proactive breast cancer risk assessment in primary care: a review based on the principles of screening. Br J Cancer 128:1636–1646. https://doi.org/10.1038/s41416-023-02145-w
doi: 10.1038/s41416-023-02145-w
pubmed: 36737659
pmcid: 9897164