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)
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 infor...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2023-12-01
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| Series: | Trials |
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| Online Access: | https://doi.org/10.1186/s13063-023-07829-5 |
| _version_ | 1797376798284054528 |
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| author | Carolina Hawranek Hans Ehrencrona Anna Öfverholm Barbro Numan Hellquist Anna Rosén |
| author_facet | Carolina Hawranek Hans Ehrencrona Anna Öfverholm Barbro Numan Hellquist Anna Rosén |
| author_sort | Carolina Hawranek |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-08T19:44:45Z |
| format | Article |
| id | doaj.art-c171f9874944417da3b8bc5f1fd6b6d3 |
| institution | Directory Open Access Journal |
| issn | 1745-6215 |
| language | English |
| last_indexed | 2024-03-08T19:44:45Z |
| publishDate | 2023-12-01 |
| publisher | BMC |
| record_format | Article |
| series | Trials |
| spelling | doaj.art-c171f9874944417da3b8bc5f1fd6b6d32023-12-24T12:28:35ZengBMCTrials1745-62152023-12-0124111510.1186/s13063-023-07829-5Direct 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)Carolina Hawranek0Hans Ehrencrona1Anna Öfverholm2Barbro Numan Hellquist3Anna Rosén4Department of Radiation Sciences, Oncology, Umeå UniversityDivision of Clinical Genetics, Department of Laboratory Medicine, Lund UniversityDepartment of Oncology, Institute of Clinical Sciences, Sahlgrenska Academy, University of GothenburgDepartment of Radiation Sciences, Oncology, Umeå UniversityDepartment of Radiation Sciences, Oncology, Umeå UniversityAbstract 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.https://doi.org/10.1186/s13063-023-07829-5Hereditary breast and ovarian cancerGenetic testingLynch syndromeRandomized controlled trialCancer preventionRisk disclosure |
| spellingShingle | Carolina Hawranek Hans Ehrencrona Anna Öfverholm Barbro Numan Hellquist Anna Rosén 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) Trials Hereditary breast and ovarian cancer Genetic testing Lynch syndrome Randomized controlled trial Cancer prevention Risk disclosure |
| 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) |
| title_full | 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) |
| title_fullStr | 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) |
| title_full_unstemmed | 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) |
| title_short | 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) |
| title_sort | 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 |
| topic | Hereditary breast and ovarian cancer Genetic testing Lynch syndrome Randomized controlled trial Cancer prevention Risk disclosure |
| url | https://doi.org/10.1186/s13063-023-07829-5 |
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