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Trials
Published in: Trials 1/2023

Open Access 01-12-2023 | Ovarian Cancer | Study protocol

Direct letters to relatives at risk of hereditary cancer—study protocol for a multi-center randomized controlled trial of healthcare-assisted versus family-mediated risk disclosure at Swedish cancer genetics clinics (DIRECT-study)

Authors: Carolina Hawranek, Hans Ehrencrona, Anna Öfverholm, Barbro Numan Hellquist, Anna Rosén

Published in: Trials | Issue 1/2023

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Abstract

Background

The results of germline genetic testing for hereditary cancer are of importance not only to the patients under investigation but also to their genetic at-risk relatives. Standard care is to encourage the proband (first family member under investigation) to pass on this risk information to the relatives. Previous research suggests that with family-mediated disclosure, only about a third of at-risk relatives contact health care to receive genetic counselling. In some studies, complementing family-mediated risk disclosure with healthcare-assisted risk disclosure almost doubles the uptake of genetic counselling in at-risk relatives. In this study, we evaluate healthcare-assisted direct letters to relatives at risk of hereditary cancer syndromes in a randomized controlled trial.

Methods

Probands are recruited from Swedish outpatient cancer genetics clinics to this two-arm randomized controlled trial. The study recruits probands with either a pathogenic variant in a cancer susceptibility gene (BRCA1, BRCA2, PALB2, MLH1, MSH2, MSH6, PMS2) or probands with familial breast and colorectal cancer based on clinical and pedigree criteria. In both arms, probands receive standard care, i.e., are encouraged and supported to pass on information to relatives. In the intervention arm, the proband is also offered to have direct letters sent to the at-risk relatives. The primary outcome measure is the proportion of at-risk relatives contacting a Swedish cancer genetics clinic within 12 months of the proband receiving the test results.

Discussion

This paper describes the protocol of a randomized controlled clinical trial evaluating a healthcare-assisted approach to risk disclosure by offering the probands to send direct letters to their at-risk relatives. The results of this study should be informative in the future development of risk disclosure practices in cancer genetics clinics.

Trial registration

ClinicalTrials.gov. Identifier NCT04197856 (pre-trial registration on December 13, 2019).
Also registered at the website “RCC Cancerstudier i Sverige” as study #86719.
Appendix
Available only for authorised users
Literature
1.
2.
Seppala TT, Latchford A, Negoi I, Sampaio Soares A, Jimenez-Rodriguez R, Sanchez-Guillen L, et al. European guidelines from the EHTG and ESCP for Lynch syndrome: an updated third edition of the Mallorca guidelines based on gene and gender. Br J Surg. 2021;108(5):484–98.CrossRefPubMedPubMedCentral
3.
Monahan KJ, Bradshaw N, Dolwani S, Desouza B, Dunlop MG, East JE, et al. 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. 2020;69(3):411–44.CrossRefPubMed
4.
Sessa C, Balmana J, Bober SL, Cardoso MJ, Colombo N, Curigliano G, et al. Risk reduction and screening of cancer in hereditary breast-ovarian cancer syndromes: ESMO clinical practice guideline. Ann Oncol. 2023;34(1):33–47.CrossRefPubMed
5.
Di Marco M, D’Andrea E, Panic N, Baccolini V, Migliara G, Marzuillo C, et al. Which Lynch syndrome screening programs could be implemented in the “real world”? A systematic review of economic evaluations. Genet Med. 2018;20(10):1131–44.CrossRefPubMedPubMedCentral
6.
Frey MK, Ahsan MD, Bergeron H, Lin J, Li X, Fowlkes RK, et al. Cascade testing for hereditary cancer syndromes: should we move toward direct relative contact? A systematic review and meta-analysis. J Clin Oncol. 2022;40(35):4129–43.CrossRefPubMedPubMedCentral
7.
Mendes A, Paneque M, Sousa L, Clarke A, Sequeiros J. How communication of genetic information within the family is addressed in genetic counselling: a systematic review of research evidence. Eur J Hum Genet. 2016;24(3):315–25.CrossRefPubMed
8.
Petersen HV, Frederiksen BL, Lautrup CK, Lindberg LJ, Ladelund S, Nilbert M. Unsolicited information letters to increase awareness of Lynch syndrome and familial colorectal cancer: reactions and attitudes. Fam Cancer. 2019;18(1):43–51.CrossRefPubMed
9.
Caswell-Jin JL, Zimmer AD, Stedden W, Kingham KE, Zhou AY, Kurian AW. Cascade genetic testing of relatives for hereditary cancer risk: results of an online initiative. J Natl Cancer Inst. 2018;111(1):95–8.CrossRefPubMedCentral
10.
Frey MK, Kahn RM, Chapman-Davis E, Tubito F, Pires M, Christos P, et al. Prospective feasibility trial of a novel strategy of facilitated cascade genetic testing using telephone counseling. J Clin Oncol. 2020;38(13):1389–97.CrossRefPubMedPubMedCentral
11.
Dheensa S, Fenwick A, Lucassen A. ‘Is this knowledge mine and nobody else’s? I don’t feel that.’ Patient views about consent, confidentiality and information-sharing in genetic medicine. J Med Ethics. 2016;42(3):174–9.CrossRefPubMed
12.
Henrikson NB, Blasi P, Gray M, Tiffany BT, Scrol A, Ralston JD, et al. Patient and family preferences on health system-led direct contact for cascade screening. J Pers Med. 2021;11(6):538.CrossRefPubMedPubMedCentral
13.
Pedrazzani C, Aceti M, Schweighoffer R, Kaiser-Grolimund A, Bürki N, Chappuis PO, et al. The communication chain of genetic risk: analyses of narrative data exploring proband–provider and proband–family communication in hereditary breast and ovarian cancer. J Pers Med. 2022;12(8):1249.CrossRefPubMedPubMedCentral
14.
Andersson A, Hawranek C, Ofverholm A, Ehrencrona H, Grill K, Hajdarevic S, et al. Public support for healthcare-mediated disclosure of hereditary cancer risk information: results from a population-based survey in Sweden. Hered Cancer Clin Pract. 2020;18:18.CrossRefPubMedPubMedCentral
15.
Hawranek C, Hajdarevic S, Rosen A. A focus group study of perceptions of genetic risk disclosure in members of the public in Sweden: “I’ll phone the five closest ones, but what happens to the other ten?” J Pers Med. 2021;11(11):1191.CrossRefPubMedPubMedCentral
16.
Grill K, Rosen A. Healthcare professionals’ responsibility for informing relatives at risk of hereditary disease. J Med Ethics. 2021;47:e12.CrossRef
17.
Young AL, Imran A, Spoelma MJ, Williams R, Tucker KM, Halliday J, et al. Proband-mediated interventions to increase disclosure of genetic risk in families with a BRCA or Lynch syndrome condition: a systematic review. Eur J Hum Genet. 2023;31(1):18–34.CrossRefPubMed
18.
Forrest LE, Burke J, Bacic S, Amor DJ. Increased genetic counseling support improves communication of genetic information in families. Genet Med. 2008;10(3):167–72.CrossRefPubMed
19.
Blasi PR, Scrol A, Anderson ML, Gray MF, Tiffany B, Fullerton SM, et al. Feasibility, acceptability, and limited efficacy of health system-led familial risk notification: protocol for a mixed-methods evaluation. Pilot Feasibility Stud. 2022;8(1):174.CrossRefPubMedPubMedCentral
20.
Spielberger CD, Gorsuch RL, Lushene RE. The State-Trait Anxiety Inventory (“Self-evaluation questionnaire”). Palo Alto: Consulting Psychologist Press; 1970.
21.
Custers JAE, Kwakkenbos L, van de Wal M, Prins JB, Thewes B. Re-validation and screening capacity of the 6-item version of the Cancer Worry Scale. Psychooncology. 2018;27:2609–15.CrossRefPubMed
22.
Hawranek C, Maxon J, Andersson A, Van Guelpen B, Hajdarevic S, NumanHellquist B, et al. Cancer worry distribution and willingness to undergo colonoscopy at three levels of hypothetical cancer risk-a population-based survey in Sweden. Cancers (Basel). 2022;14(4):918.CrossRefPubMed
23.
Forsberg C, Bjorvell H. Swedish population norms for the GHRI, HI and STAI-state. Qual Life Res. 1993;2(5):349–56.CrossRefPubMed
24.
Ohlsson-Nevo E, Hiyoshi A, Noren P, Moller M, Karlsson J. The Swedish RAND-36: psychometric characteristics and reference data from the Mid-Swed Health Survey. J Patient Rep Outcomes. 2021;5(1):66.CrossRefPubMedPubMedCentral
Metadata
Title
Direct letters to relatives at risk of hereditary cancer—study protocol for a multi-center randomized controlled trial of healthcare-assisted versus family-mediated risk disclosure at Swedish cancer genetics clinics (DIRECT-study)
Authors
Carolina Hawranek
Hans Ehrencrona
Anna Öfverholm
Barbro Numan Hellquist
Anna Rosén
Publication date
01-12-2023
Publisher
BioMed Central
Published in
Trials / Issue 1/2023
Electronic ISSN: 1745-6215
DOI
https://doi.org/10.1186/s13063-023-07829-5

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