Uptake and predictors of colonoscopy use in family members not participating in cascade genetic testing for Lynch syndrome

Donald W Hadley, Dina Eliezer, Yonit Addissie, Andrea Goergen, Sato Ashida, Laura Koehly, Donald W Hadley, Dina Eliezer, Yonit Addissie, Andrea Goergen, Sato Ashida, Laura Koehly

Abstract

Cascade genetic testing provides a method to appropriately focus colonoscopy use in families with Lynch syndrome (LS). However, research suggests that up to two-thirds at risk to inherit LS don't participate. Within the United States, no studies have assessed colonoscopy use within this elusive and high-risk subset. We set forth to (1) document colonoscopy use within those not undergoing genetic testing (NGT) and (2) identify factors associated with completing colonoscopy. Data came from a cross sectional survey of families with molecularly confirmed LS. One hundred seventy-six (176) adults participated; 47 of unknown variant status and 129 with variant status known (59 carriers/70 non-carriers). Despite a high level of awareness of LS (85%) and identical recommendations for colonoscopy, NGT reported significantly lower use of colonoscopy than carriers (47% vs. 73%; p = 0.003). Our results show that perceived risk to develop colon cancer (AOR = 1.99, p < 0.05) and physician recommendations (AOR = 7.64, p < 0.01) are significant predictors of colonoscopy use across all family members controlling for carrier status. Given these findings, health care providers, should assess patients' perceived risk to develop cancer, assist them in adjusting risk perceptions and discuss recommendations for colonoscopy with all members in families with LS.Trial Registration Clinical Trials.gov Identifier: NCT00004210.

Conflict of interest statement

The authors declare no competing interests.

Figures

Figure 1
Figure 1
Colonoscopy use (percent) within past 2 years stratified by variant status.
Figure 2
Figure 2
Study diagram.

References

    1. Lynch HT, Lynch PM, Lanspa SJ, Snyder CL, Lynch JF, Boland CR. Review of the Lynch syndrome: history, molecular genetics, screening, differential diagnosis, and medicolegal ramifications. Clin. Genet. 2009;76(1):1–18. doi: 10.1111/j.1399-0004.2009.01230.x.
    1. Ligtenberg MJ, Kuiper RP, Geurts van Kessel A, Hoogerbrugge N. EPCAM deletion carriers constitute a unique subgroup of Lynch syndrome patients. Fam. Cancer. 2013;12(2):169–174. doi: 10.1007/s10689-012-9591-x.
    1. Barrow E, Hill J, Evans DG. Cancer risk in Lynch Syndrome. Fam. Cancer. 2013;12(2):229–240. doi: 10.1007/s10689-013-9615-1.
    1. Win AK, Jenkins MA, Dowty JG, et al. Prevalence and penetrance of major genes and polygenes for colorectal cancer. Cancer Epidemiol. Biomark. Prev. 2017;26(3):404–412. doi: 10.1158/1055-9965.EPI-16-0693.
    1. Frankel WL, Arends MJ, Frayling IM, Nagtegaal ID. Lynch Syndrome. In: WHO Classification of Tumours Editorial Board. Digestive system tumours. 5th ed. 515–521 (International Agency for Research on Cancer, Lyon, France, 2019).
    1. Bernhardt BA, Zayac C, Pyeritz RE. Why is genetic screening for autosomal dominant disorders underused in families? The case of hereditary hemorrhagic telangiectasia. Genet. Med. 2011;13(9):812–820. doi: 10.1097/GIM.0b013e31821d2e6d.
    1. Jarvinen HJ, Aarnio M, Mustonen H, et al. Controlled 15-year trial on screening for colorectal cancer in families with hereditary nonpolyposis colorectal cancer. Gastroenterology. 2000;118(5):829–834. doi: 10.1016/S0016-5085(00)70168-5.
    1. de Vos tot Nederveen Cappel WH, Jarvinen HJ, Lynch PM, Engel C, Mecklin JP, Vasen HF. Colorectal surveillance in Lynch syndrome families. Fam. Cancer. 2013;12(2):261–265. doi: 10.1007/s10689-013-9631-1.
    1. Douglas JA, Gruber SB, Meister KA, et al. History and molecular genetics of Lynch syndrome in family G: a century later. JAMA. 2005;294(17):2195–2202. doi: 10.1001/jama.294.17.2195.
    1. Hadley DW, Jenkins JF, Dimond E, de Carvalho M, Kirsch I, Palmer CG. Colon cancer screening practices after genetic counseling and testing for hereditary nonpolyposis colorectal cancer. J Clin. Oncol. 2004;22(1):39–44. doi: 10.1200/JCO.2004.06.128.
    1. Halbert CH, Lynch H, Lynch J, et al. Colon cancer screening practices following genetic testing for hereditary nonpolyposis colon cancer (HNPCC) mutations. Arch. Intern. Med. 2004;164(17):1881–1887. doi: 10.1001/archinte.164.17.1881.
    1. Esplen MJ, Wong J, Aronson M, et al. Long-term psychosocial and behavioral adjustment in individuals receiving genetic test results in Lynch syndrome. Clin. Genet. 2015;87(6):525–532. doi: 10.1111/cge.12509.
    1. Aktan-Collan K, Kaariainen H, Jarvinen H, et al. Psychosocial consequences of predictive genetic testing for Lynch syndrome and associations to surveillance behaviour in a 7-year follow-up study. Fam. Cancer. 2013;12(4):639–646. doi: 10.1007/s10689-013-9628-9.
    1. Bleiker EM, Esplen MJ, Meiser B, Petersen HV, Patenaude AF. 100 years Lynch syndrome: what have we learned about psychosocial issues? Fam. Cancer. 2013;12(2):325–339. doi: 10.1007/s10689-013-9653-8.
    1. Lindor NM, Petersen GM, Hadley DW, et al. Recommendations for the care of individuals with an inherited predisposition to Lynch syndrome: a systematic review. JAMA. 2006;296(12):1507–1517. doi: 10.1001/jama.296.12.1507.
    1. Giardiello FM, Allen JI, Axilbund JE, et al. Guidelines on genetic evaluation and management of Lynch syndrome: a consensus statement by the US Multi-society Task Force on colorectal cancer. Am. J. Gastroenterol. 2014;109(8):1159–1179. doi: 10.1038/ajg.2014.186.
    1. Sharaf RN, Myer P, Stave CD, Diamond LC, Ladabaum U. Uptake of genetic testing by relatives of lynch syndrome probands: a systematic review. Clin. Gastroenterol. Hepatol. 2013;11(9):1093–1100. doi: 10.1016/j.cgh.2013.04.044.
    1. Ramsoekh D, van Leerdam ME, Tops CM, et al. The use of genetic testing in hereditary colorectal cancer syndromes: genetic testing in HNPCC, (A)FAP and MAP. Clin. Genet. 2007;72(6):562–567. doi: 10.1111/j.1399-0004.2007.00912.x.
    1. Christiaans I, Birnie E, Bonsel GJ, Wilde AA, van Langen IM. Uptake of genetic counselling and predictive DNA testing in hypertrophic cardiomyopathy. Eur. J. Hum. Genet. 2008;16(10):1201–1207. doi: 10.1038/ejhg.2008.92.
    1. Finlay E, Stopfer JE, Burlingame E, et al. Factors determining dissemination of results and uptake of genetic testing in families with known BRCA1/2 mutations. Genet. Test. 2008;12(1):81–91. doi: 10.1089/gte.2007.0037.
    1. Aktan-Collan K, Mecklin JP, Jarvinen H, et al. Predictive genetic testing for hereditary non-polyposis colorectal cancer: uptake and long-term satisfaction. Int. J. Cancer. 2000;89(1):44–50. doi: 10.1002/(SICI)1097-0215(20000120)89:1<44::AID-IJC8>;2-3.
    1. Lerman C, Hughes C, Trock BJ, et al. Genetic testing in families with hereditary nonpolyposis colon cancer. JAMA. 1999;281(17):1618–1622. doi: 10.1001/jama.281.17.1618.
    1. Giardiello FM, Allen JI, Axilbund JE, et al. Guidelines on genetic evaluation and management of Lynch syndrome: a consensus statement by the US Multi-Society Task Force on colorectal cancer. Gastroenterology. 2014;147(2):502–526. doi: 10.1053/j.gastro.2014.04.001.
    1. Barrow P, Green K, Clancy T, Lalloo F, Hill J, Evans DG. Improving the uptake of predictive testing and colorectal screening in Lynch syndrome: a regional primary care survey. Clin. Genet. 2015;87(6):517–524. doi: 10.1111/cge.12559.
    1. Hadley DW, Jenkins JF, Steinberg SM, et al. Perceptions of cancer risks and predictors of colon and endometrial cancer screening in women undergoing genetic testing for Lynch syndrome. J. Clin. Oncol. 2008;26(6):948–954. doi: 10.1200/JCO.2007.13.0575.
    1. Boonyasiriwat W, Hung M, Hon SD, et al. Intention to undergo colonoscopy screening among relatives of colorectal cancer cases: a theory-based model. Ann. Behav. Med. Publ. Soc. Behav. Med. 2014;47(3):280–291. doi: 10.1007/s12160-013-9562-y.
    1. Burton-Chase AM, Hovick SR, Sun CC, et al. Gynecologic cancer screening and communication with health care providers in women with Lynch syndrome. Clin. Genet. 2014;86(2):185–189. doi: 10.1111/cge.12246.
    1. Ashida S, Hadley DW, Goergen AF, Skapinsky KF, Devlin HC, Koehly LM. The importance of older family members in providing social resources and promoting cancer screening in families with a hereditary cancer syndrome. Gerontologist. 2011;51(6):833–842. doi: 10.1093/geront/gnr049.
    1. Gimeno Garcia AZ, Quintero E, Nicolas Perez D, Hernandez M, JimenezSosa A. Colorectal cancer screening in first-degree relatives of colorectal cancer: participation, knowledge, and barriers against screening. Eur. J. Gastroenterol. Hepatol. 2011;23(12):1165–1171. doi: 10.1097/MEG.0b013e32834a289e.
    1. Vernon SW. Risk perception and risk communication for cancer screening behaviors: a review. J. Natl. Cancer Inst. Monogr. 1999;25:101–119. doi: 10.1093/oxfordjournals.jncimonographs.a024184.
    1. Flander L, Speirs-Bridge A, Rutstein A, et al. Perceived versus predicted risks of colorectal cancer and self-reported colonoscopies by members of mismatch repair gene mutation-carrying families who have declined genetic testing. J. Genet. Couns. 2014;23(1):79–88. doi: 10.1007/s10897-013-9614-2.
    1. Collins V, Meiser B, Gaff C, St John DJ, Halliday J. Screening and preventive behaviors one year after predictive genetic testing for hereditary nonpolyposis colorectal carcinoma. Cancer. 2005;104(2):273–281. doi: 10.1002/cncr.21183.
    1. Aktan-Collan K, Haukkala A, Mecklin JP, Uutela A, Kaariainen H. Comprehension of cancer risk one and 12 months after predictive genetic testing for hereditary non-polyposis colorectal cancer. J. Med. Genet. 2001;38(11):787–792. doi: 10.1136/jmg.38.11.787.
    1. Bjorvatn C, Eide GE, Hanestad BR, et al. Risk perception, worry and satisfaction related to genetic counseling for hereditary cancer. J. Genet. Couns. 2007;16(2):211–222. doi: 10.1007/s10897-006-9061-4.
    1. Sivell S, Elwyn G, Gaff CL, et al. How risk is perceived, constructed and interpreted by clients in clinical genetics, and the effects on decision making: systematic review. J Genet. Couns. 2008;17(1):30–63. doi: 10.1007/s10897-007-9132-1.
    1. Menko FH, Ter Stege JA, van der Kolk LE, et al. The uptake of presymptomatic genetic testing in hereditary breast-ovarian cancer and Lynch syndrome: a systematic review of the literature and implications for clinical practice. Fam. Cancer. 2019;18(1):127–135. doi: 10.1007/s10689-018-0089-z.
    1. Menko FH, Aalfs CM, Henneman L, et al. Informing family members of individuals with Lynch syndrome: a guideline for clinical geneticists. Fam. Cancer. 2013;12(2):319–324. doi: 10.1007/s10689-013-9636-9.
    1. Gimeno Garcia AZ. Factors influencing colorectal cancer screening participation. Gastroenterol. Res. Pract. 2012;2012:483417. doi: 10.1155/2012/483417.
    1. Wang C, Sen A, Ruffin MT, et al. Family history assessment: impact on disease risk perceptions. Am. J. Prevent. Med. 2012;43(4):392–398. doi: 10.1016/j.amepre.2012.06.013.
    1. Tan YY, Spurdle AB, Obermair A. Knowledge, attitudes and referral patterns of lynch syndrome: a survey of clinicians in australia. J. Pers. Med. 2014;4(2):218–244. doi: 10.3390/jpm4020218.
    1. Domanska K, Carlsson C, Bendahl PO, Nilbert M. Knowledge about hereditary nonpolyposis colorectal cancer; mutation carriers and physicians at equal levels. BMC Med. Genet. 2009;10:30. doi: 10.1186/1471-2350-10-30.
    1. Frey MK, Taylor JS, Pauk SJ, et al. Knowledge of Lynch syndrome among obstetrician/gynecologists and general surgeons. Int. J. Gynaecol. Obstet. 2014;126(2):161–164. doi: 10.1016/j.ijgo.2014.02.024.
    1. Weinstein ND, Klein WM. Resistance of personal risk perceptions to debiasing interventions. Health Psychol. 1995;14(2):132–140. doi: 10.1037/0278-6133.14.2.132.
    1. Hadley DW, Jenkins J, Dimond E, et al. Genetic counseling and testing in families with hereditary nonpolyposis colorectal cancer. Arch. Intern. Med. 2003;163(5):573–582. doi: 10.1001/archinte.163.5.573.
    1. Jasperson K. Colorectal cancer: Cascade genetic testing in Lynch syndrome: room for improvement. Nat. Rev. Gastroenterol. Hepatol. 2013;10(9):506–508. doi: 10.1038/nrgastro.2013.122.

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