Postal recruitment for genetic studies of preterm birth: A feasibility study

Keag, O; Murphy, Lee; Bradley, Aoibheann; Deakin, Naomi; Whyte, Sonia; Norman, Jane E.; Stock, Sarah

doi:10.12688/wellcomeopenres.15207.1

Cited by 3 publications

(9 citation statements)

References 18 publications

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“…Potential participants were sent a letter of invitation to the "OPPTIMUM genetics" study from 20 th April 2015 to 23 rd July 2015 (see extended data 12 ). Women who had a stillbirth, neonatal or infant death were sent an alternate letter of invitation (see extended data 12 ). Women were asked to reply by email, phone, text or post to indicate their interest in participating.…”

Section: Recruitmentmentioning

confidence: 99%

“…Women who responded positively to the invitation letter were sent a recruitment pack (see extended data: Appendix 3 12 ).…”

Section: Sample Collectionmentioning

confidence: 99%

“…Women who had a live infant were invited to provide a saliva sample from themselves and their baby born whilst participating in the OPPTIMUM study; for those women who had experienced infant loss, an alternative pack was sent with a collection kit for themselves only. The recruitment packs contained a recruitment letter, patient information leaflet, maternal consent form (2 copies), child assent form (if child over 4 years old), instructions for saliva sample collection for mother and maternal saliva sample collection kit (Oragene OG-500, DNA Genotek), a clinical data questionnaire and a postal return kit (postage paid; see extended data 12 ). Where appropriate, instructions for saliva sample collection for baby, and an infant saliva sample collection kit (Oragene OG-575, DNA Genotek) was included.…”

Section: Sample Collectionmentioning

confidence: 99%

“…Where appropriate, instructions for saliva sample collection for baby, and an infant saliva sample collection kit (Oragene OG-575, DNA Genotek) was included. If the participant's baby had died, they were invited to provide a saliva sample from themselves, and an alternative recruitment pack was sent (see extended data: Appendix 3 12 ). Women who had not returned the recruitment pack after 6-8 weeks were sent a single reminder letter.…”

Section: Sample Collectionmentioning

confidence: 99%

“…The questionnaire was designed by the OPPTIMUM trial team to meet the minimum data required for a study of PTB 13 and was piloted in 20 postpartum women. It included questions on gestation at birth, maternal age at birth, birth method, labour onset, membrane rupture, maternal smoking, non-prescription drug use and alcohol intake, as well as the number of previous pregnancies and maternal ethnic origin (see extended data: Appendix 1 12 ). Participants were asked to answer the questions in relation to their pregnancy during the OPPTIMUM trial.…”

Section: Questionnaire Design and Applicationmentioning

confidence: 99%

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Postal recruitment for genetic studies of preterm birth: A feasibility study

et al. 2020

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Background: Preterm birth (PTB) represents the leading cause of neonatal death. Large-scale genetic studies are necessary to determine genetic influences on PTB risk, but prospective cohort studies are expensive and time-consuming. We investigated the feasibility of retrospective recruitment of post-partum women for efficient collection of genetic samples, with self-collected saliva for DNA extraction from themselves and their babies, alongside self-recollection of pregnancy and birth details to phenotype PTB. Methods: 708 women who had participated in the OPPTIMUM trial (a randomised trial of progesterone pessaries to prevent PTB [ISRCTN14568373]) and consented to further contact were invited to provide self-collected saliva from themselves and their babies. DNA was extracted from Oragene OG-500 (adults) and OG-575 (babies) saliva kits and the yield measured by Qubit. Samples were analysed using a panel of Taqman single nucleotide polymorphism (SNP) assays. A questionnaire designed to meet the minimum data set required for phenotyping PTB was included. Questionnaire responses were transcribed and analysed for concordance with prospective trial data using Cohen’s kappa (k). Results: Recruitment rate was 162/708 (23%) for self-collected saliva samples and 157/708 (22%) for questionnaire responses. 161 samples from the mother provided DNA with median yield 59.0µg (0.4-148.9µg). 156 samples were successfully genotyped (96.9%). 136 baby samples had a median yield 11.5µg (0.1-102.7µg); two samples failed DNA extraction. 131 baby samples (96.3%) were successfully genotyped. Concordance between self-recalled birth details and prospective birth details was excellent (k>0.75) in 4 out of 10 key fields for phenotyping PTB (mode of delivery, labour onset, ethnicity and maternal age at birth). Conclusion: This feasibility study demonstrates that self-collected DNA samples from mothers and babies were sufficient for genetic analysis but yields were variable. Self-recollection of pregnancy and birth details was inadequate for accurately phenotyping PTB, highlighting the need for alternative strategies for investigating genetic links with PTB.

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Section: Recruitmentmentioning

confidence: 99%

“…Women who responded positively to the invitation letter were sent a recruitment pack (see extended data: Appendix 3 12 ).…”

Section: Sample Collectionmentioning

confidence: 99%

Section: Sample Collectionmentioning

confidence: 99%

Section: Sample Collectionmentioning

confidence: 99%

Section: Questionnaire Design and Applicationmentioning

confidence: 99%

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Postal recruitment for genetic studies of preterm birth: A feasibility study

et al. 2020

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Predictors for participation in DNA self-sampling of childhood cancer survivors in Switzerland

Waespe

Strebel

Marino

et al. 2021

Preprint

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Research on germline genetic variants relies on a sufficient number of eligible participants which is difficult to achieve for rare diseases such as childhood cancer. With self-collection kits using saliva or buccal swabs, participants can contribute genetic samples conveniently from their home. We identified determinants of participation in DNA self-collection in this cross-sectional study. We invited 928 childhood cancer survivors in Switzerland with a median age of 26.5 years (interquartile range 18.8-36.5), of which 463 (50%) participated. Foreign nationality (odds ratio [OR] 0.5, 95%-confidence interval [CI] 0.4-0.7), survivors aged 30-39 years at study versus other age groups (OR 0.5, CI 0.4-0.8), and those with a known cancer predisposition syndrome (OR 0.5, CI 0.3-1.0) participated less. Survivors with a second primary neoplasm (OR 1.9, CI 1.0-3.8) or those living in a French or Italian speaking region (OR 1.3, 1.0-1.8) tended to participate more. We showed that half of survivors participate in germline DNA self-sampling relying completely on mailing of sample kits. Foreign nationality, age 30-39 years, and cancer predisposition syndromes were associated with less participation. More targeted recruitment strategies may be advocated for these subgroups. To increase participation in DNA self-sampling, understanding and perceptions of survivors need to be better understood.

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Predictors for participation in DNA self-sampling of childhood cancer survivors in Switzerland

Waespe

Strebel

Marino

et al. 2021

BMC Med Res Methodol

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Background Research on germline genetic variants relies on enough eligible participants which is difficult to achieve for rare diseases such as childhood cancer. With self-collection kits, participants can contribute genetic samples conveniently from their home. Demographic and clinical factors were identified previously that influenced participation in mailed self-collection. People with pre-existing heritable diagnoses might participate differently in germline DNA collection which might render sampling biased in this group. In this nationwide cross-sectional study, we analysed predictive factors of participation in DNA self-collection including heritable diagnoses. Methods We identified childhood cancer survivors from the Swiss Childhood Cancer Registry for invitation to germline DNA self-sampling in September 2019. Participants received saliva sampling kits by postal mail at their home, were asked to fill them, sign an informed consent, and send them back by mail. Two reminders were sent to non-participants by mail. We compared demographic, clinical, and treatment information of participants with non-participants using univariable and multivariable logistic regression models. Results We invited 928 childhood cancer survivors in Switzerland with a median age of 26.5 years (interquartile range 19-37), of which 463 (50%) participated. After the initial send out of the sampling kit, 291 (63%) had participated, while reminder letters led to 172 additional participants (37%). Foreign nationality (odds ratio [OR] 0.5; 95%-confidence interval [CI] 0.4-0.7), survivors aged 30-39 years at study versus other age groups (OR 0.5; CI 0.4-0.8), and survivors with a known cancer predisposition syndrome (OR 0.5; CI 0.3-1.0) were less likely to participate in germline DNA collection. Survivors with a second primary neoplasm (OR 1.9; CI 1.0-3.8) or those living in a French or Italian speaking region (OR 1.3; CI 1.0-1.8) tended to participate more. Conclusions We showed that half of childhood cancer survivors participated in germline DNA self-sampling relying completely on mailing of sample kits. Written reminders increased the response by about one third. More targeted recruitment strategies may be advocated for people of foreign nationality, aged 30-39 years, and those with cancer predisposition syndromes. Perceptions of genetic research and potential barriers to participation of survivors need to be better understood. Trial registration Biobank: https://directory.bbmri-eric.eu/#/collection/bbmri-eric:ID:CH_HopitauxUniversitairesGeneve:collection:CH_BaHOP Research project: Clinicaltrials.gov: NCT04702321.

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Postal recruitment for genetic studies of preterm birth: A feasibility study

Cited by 3 publications

References 18 publications

Postal recruitment for genetic studies of preterm birth: A feasibility study

Postal recruitment for genetic studies of preterm birth: A feasibility study

Predictors for participation in DNA self-sampling of childhood cancer survivors in Switzerland

Predictors for participation in DNA self-sampling of childhood cancer survivors in Switzerland

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