Factors Influencing Participation in a Population-based Biorepository for Childhood Heart Disease

Papaz, Tanya; Safi, Mina; Manickaraj, Ashok Kumar; Ogaki, Carly; Kyryliuk, Jennifer Breaton; Burrill, Liz; Dodge, C. L.; Chant-Gambacort, Catherine; Walter, Laura-Lee; Rosenberg, Hans; Mondal, Tapas; Smythe, John; Lougheed, Jane; Bergin, Lynn; Gordon, Elaine; Chitayat, David; Oechslin, Erwin; Mital, Seema

doi:10.1542/peds.2012-0687

Cited by 21 publications

(20 citation statements)

References 16 publications

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“…42 The importance of population biorepositories such as ours that capture both genetic and environmental data to address these gaps in knowledge cannot be overemphasized. 24 Our study was limited by the lack of routine echocardiographic, extra-cardiac, and genetic screening of all CHD families which may have resulted in underestimation of recurrence rates and of ECAs. Since patients were recruited after birth, the study excluded prenatally diagnosed cases that died or underwent termination antenatally or those that died early postnatally which may have resulted in underrepresentation of the most severe phenotypes.…”

Section: Discussionmentioning

confidence: 97%

“…Finally, an improved knowledge of pharmacogenomics may enable us in the future to identify which pregnancies are susceptible to the teratogenic effects of specific medications and help individualize prenatal counseling towards reducing risk factor exposure in at‐risk pregnancies . The importance of population biorepositories such as ours that capture both genetic and environmental data to address these gaps in knowledge cannot be overemphasized …”

Section: Discussionmentioning

confidence: 99%

“…Consent was obtained for donation of biological samples including DNA, tissue, ongoing review of the patient's medical and surgical records, and completion of an intake questionnaire by the patient/parent. Details of the cohort design and recruitment processes have been previously published …”

Section: Methodsmentioning

confidence: 99%

“…Details of the cohort design and recruitment processes have been previously published. 24 The following clinical information was captured through questionnaires-maternal and paternal age at conception, parental consanguinity, maternal medical, gestational and obstetric history, smoking, alcohol and drug exposure during first trimester of pregnancy, and a multi-generational family history of CHD and other birth defects. Exposure was defined by positive maternal history during the first trimester of pregnancy to the various exposures listed in Table 3.…”

Section: Methodsmentioning

confidence: 99%

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Impact of Prenatal Risk Factors on Congenital Heart Disease in the Current Era

Fung

Manlhiot

Naik

et al. 2013

JAHA

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115

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BackgroundThe healthcare burden related to congenital heart disease (CHD) is increasing with improving survival. We assessed changing trends in prenatal risk factors for CHD in the current era in a Canadian cohort.Methods and ResultsCHD patients <18 years old (n=2339) and controls without structural heart disease (n=199) were prospectively enrolled in an Ontario province‐wide biobank registry from 2008–2011. Family history, frequency of extra‐cardiac anomalies (ECAs), and antenatal risk factors were assessed. Temporal trends were analyzed and associations with CHD were measured using linear and logistic regression. Family history of CHD and frequency of major ECAs was higher in cases versus controls (P<0.001). Despite an increase in genetic testing in the recent era, only 9.5% of cases with CHD had a confirmed genetic diagnosis. Yield of genetic testing (ie, frequency of abnormal results) was higher in familial and syndromic cases. There was an increase in parental age at conception, maternal prepregnancy body mass index, maternal urinary tract infections, type 1 diabetes, and exposure to nonfertility medications during pregnancy from 1990–2011. Later year of birth, family history of CHD, presence of major ECAs, maternal smoking during pregnancy, and maternal medication exposure were associated with increased odds of CHD (P<0.05 for all). Advanced parental age was associated with increased odds of CHD caused by genetic abnormalities.ConclusionsThe increase in prenatal risk factors for CHD highlights the need for more rigorous ascertainment of genetic and environmental factors including gene‐environment interactions that contribute to CHD.

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Section: Discussionmentioning

confidence: 97%

Section: Discussionmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

See 2 more Smart Citations

Impact of Prenatal Risk Factors on Congenital Heart Disease in the Current Era

Fung

Manlhiot

Naik

et al. 2013

JAHA

Self Cite

115

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“…Three areas of pediatric and neonatal research have been recently investigated in this respect: genomic screening, healthy children donating stem cells, and therapeutic hypothermia for neonates with hypoxic–ischemic encephalopathy (23). Even when consenting minors for genetic research and bio-banking involves ethical and social challenges, other researchers proved that ethical, social, or legal issues were not the leading reasons for refusal of consent, demonstrating a high pediatric consent rate (90%) comparable with that of adults (24). …”

Section: Children Undoubtedly Represent the Future Of The Worldmentioning

confidence: 99%

Great Challenges in Pediatrics

Corno¹

2013

Front. Pediatr.

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Pediatric biobanks to enhance clinical and translational research for children

et al. 2023

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Including children in biomedical research is an argument for continual reflection and practice refinement from an ethical and legal standpoint. Indeed, as children reach adulthood, a reconsent method should be used, and data connected with samples should ideally be updated based on the children’s growth and long-term results. Furthermore, because most pediatric disorders are uncommon, children’s research initiatives should conform to standard operating procedures (SOPs) set by worldwide scientific organizations for successfully sharing data and samples. Here, we examine how pediatric biobanks can help address some challenges to improve biomedical research for children. Indeed, modern biobanks are evolving as complex research platforms with specialized employees, dedicated spaces, information technologies services (ITS), and ethical and legal expertise. In the case of research for children, biobanks can collaborate with scientific networks (i.e., BBMRI–ERIC) and provide the collection, storage, and distribution of biosamples in agreement with international standard procedures (ISO-20387). Close collaboration among biobanks provides shared avenues for maximizing scarce biological samples, which is required to promote the translation of scientific breakthroughs for developing clinical care and health policies tailored to the pediatric population. Moreover, biobanks, through their science communication and dissemination activities (i.e., European Biobank Week), may be helpful for children to understand what it means to be engaged in a research study, allowing them to see it as a pleasant, useful, and empowering experience. Additionally, biobanks can notify each participant about which projects have been accomplished (i.e., through their websites, social media networks, etc.); they can facilitate future reconsent procedures and update sample-associated data based on the children’s growth. Finally, because of the increasing interest from public and commercial organizations in research efforts that include the sharing and reuse of health data, pediatric biobanks have a crucial role in this context. Consequently, they could benefit from funding opportunities for sustaining research activities even regarding rare pediatric disorders. Conclusion : Pediatric biobanks are helpful for providing biological material for research purposes, addressing ethical and legal issues (i.e. data protection, consent, etc.), and providing control samples from healthy children of various ages and from different geographical regions and ethnicities. Therefore, it is vital to encourage and maintain children’s engagement in medical research programs and biobanking activities, especially as children become adults, and reconsent procedures must be applied. What is Known: • Biobanks are critical research infrastructures for medical research, especially in the era of “omic” science. However, in light of their fragility and rights children’s participation in biobanking an...

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Factors Influencing Participation in a Population-based Biorepository for Childhood Heart Disease

Abstract: The high pediatric consent rate (90%) was comparable with that of adults. Ethical, social, or legal issues were not the leading reasons for refusal of consent.

Cited by 21 publications

References 16 publications

Impact of Prenatal Risk Factors on Congenital Heart Disease in the Current Era

Impact of Prenatal Risk Factors on Congenital Heart Disease in the Current Era

Great Challenges in Pediatrics

Pediatric biobanks to enhance clinical and translational research for children

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