Martina C Cornel
Biographic Data
| ID | 1249268 |
|---|---|
| NAME | Martina C Cornel |
| GIVEN NAMES | Martina C |
| FAMILY NAME | Cornel |
| SIGNATURE | CORNEL M C |
| AFFILIATIONS | Amsterdam Public Health |
| ORCID | 0000-0002-5397-5544 |
| VERIFIED | Yes |
| TOTAL WORKS | 35 |
| TOTAL CITATIONS | 11 |
| AUTHOR COUNT | 35 |
| EDITOR COUNT | 0 |
| FIRST PUBLICATION YEAR | 1988 |
| LATEST PUBLICATION YEAR | 2026 |
| H-INDEX | 2 |
Dutch Christian Faith Leaders Deliberating Human Germline Gene Editing
While human germline gene editing (HGGE) is not allowed, the World Health Organization and others called for public dialogue to clarify the values at stake. Some values may be rooted in religion, such as Christianity, and relevant to religious communities and wider society. In-depth interviews (N = 16) were conducted with Dutch Christian faith leaders in 2019 and 2024. Participants were asked about their views and underlying values, their possibl…
Personalised prevention
Enhancing patient and public engagement in personalised prevention requires more focus on communication, inclusivity, and secure data use. The findings provide actionable insights, promoting systematic engagement across Research, Care, and Governance. Clear information about prevention strategies and treatment options must be accessible, while diverse voices should be represented in decision-making. Collaboration with communities and better use o…
The impact of counselors’ values and religious beliefs on their role identity and perspectives on heritable genome editing
The implementation of the noninvasive prenatal test has shown the importance of involving future care providers in healthcare innovations at an early stage. Therefore, in this explorative study in-depth interviews were performed with Dutch midwife counselors who explicitly identify as religious, to explore how they currently deal with their worldview during counseling for prenatal anomaly screening and regarding their perspectives on heritable ge…
Engagement of patients and the public in personalised prevention in Europe using genomic information
Introduction: Personalised prevention using genomic information requires active involvement from patients and the public, who should be well-informed and empowered to make healthcare decisions that reflect their personal values. We aimed to map engagement practises, and assess the extent and types of engagement methods used in the field of personalised prevention of common chronic conditions using genomic information. Methods: A scoping review on…
Between desire and fear
Human genome editing technologies are advancing at a rapid pace, and their potential disruptive implications lead to ethical and societal questions that cannot be addressed by scientists alone. Further consideration of different stakeholders’ views on human genome editing is crucial to translate society’s needs and values into thoughtful regulations and policies. We therefore explored the views of carriers of autosomal dominant disorders on somat…
Neonatal and carrier screening for rare diseases
Screening for rare diseases first began more than 50 years ago with neonatal bloodspot screening (NBS) for phenylketonuria, and carrier screening for Tay-Sachs disease, sickle cell anaemia and β-thalassaemia. NBS's primary aim is health gain for children, while carrier screening enables autonomous reproductive choice. While screening can be beneficial, it also has the potential to cause harm and thus decisions are needed on whether a specific scr…
Direct-to-consumer carrier screening for cystic fibrosis via a hospital website
A Dutch university hospital started offering cystic fibrosis (CF) carrier screening directly to consumers (DTC) through their website in 2010. A 6-year process evaluation was conducted to evaluate the offer. Screening was implemented as intended. However, uptake was lower than expected. Forty-four tests have been requested, partly by couples with a positive family history for CF, which was not the intended target group. Users were generally posit…
Genomics for all in the 21st century
As the field of genomics enters the second decade after the completion of the International Human Genome Project, human genomics research is still far from reflective of the ancestral diversity found in global populations. This special issue of the Journal of Community Genetics brings together a global perspective on the need for researchers and health care professionals to support achievable milestones that will enhance global ancestral diversit…
Blame—a novel by Tony Holtzman
After writing many scientific articles at the interface of genetics and society, Neil A (Tony) Holtzman published a novel in Autumn 2016: Blame. This book review summarizes several of the story lines, some of which are related to the Inclusion of Diverse Populations in Genomics Research and Health Services, the topic of a special issue of the Journal of Community Genetics
The challenges of the expanded availability of genomic information
Rapid advances in microarray and sequencing technologies are making genotyping and genome sequencing more affordable and readily available. There is an expectation that genomic sequencing technologies improve personalized diagnosis and personalized drug therapy. Concurrently, provision of direct-to-consumer genetic testing by commercial providers has enabled individuals' direct access to their genomic data. The expanded availability of genomic da…
Implementing genetic education in primary care
Effects of a simple educational intervention in well-baby clinics on women’s knowledge about and intake of folic acid supplements in the periconceptional period
Objective To test the hypothesis that a concise intervention to promote the preconception use of folic acid (FA) supplements among mothers who visit a well-baby clinic (WBC) for the 6-month check-up of their youngest child is effective. Effectiveness was measured as intention to use or actual use of FA supplements before a next pregnancy among women who expected to be pregnant within 0–12 months. Design Controlled intervention study with independ…
Developing a framework for implementation of genetic services
The Dutch national summit on preconception care
Factors associated with not using folic acid supplements preconceptionally
Objective Neural tube defects are among the most common birth defects worldwide. Folic acid intake from one month before to three months after conception reduces the likelihood of neural tube defects by at least 50 %. Since 1995, several campaigns have been organised in the Netherlands which resulted in 51 % of pregnant women using folic acid supplements during the entire recommended period in the northern part of the Netherlands in 2005. Our res…
Illness representations of type 2 diabetes patients are associated with perceptions of diabetes threat in relatives
In the fight against the type 2 diabetes epidemic, patients might be asked to discuss familial susceptibility to type 2 diabetes in their family. Illness representations of patients ( N = 546) were assessed to explore their impact on perceived type 2 diabetes threat in relatives. Reporting high type 2 diabetes burden, emotional impact and perceiving type 2 diabetes as an inheritable disease seemed to increase patients' family risk perception and …
Using web-based familial risk information for diabetes prevention
NTR1938
The challenge of implementing genetic tests with clinical utility while avoiding unsound applications
The Politics of Representation in the Governance of Emergent 'Secondary Use' Biobanks
There is an international discussion to transform the collection of dried blood spot (DBS) card collections resulting from neonatal public health screening programs into a kind of biobank through the formalization of their (prolonged) retention and by expanding their use in medical research and development (R&D) practices. Given the scale of neonatal heel prick screening, these blood samples are increasingly being considered as a wealth of biolog…
The promises of genomic screening
New screening possibilities become available at a high rate, both useful and unsound possibilities. All screening programmes do harm, and only few have more advantages than disadvantages at reasonable cost. Horizon scanning is needed to identify those few possibilities with more pros than cons. Attunement is needed between actors involved: scientists developing new high-throughput screening techniques and treatment, health care workers, patients …
Connective tissue
Genetic screening and democracy
Recent decades have witnessed increasing possibilities for genetic testing and screening. In clinical genetics, the doctor's office defined a secluded space for discussion of sensitive reproductive options in cases of elevated risk for genetic disorders in individuals or their offspring. When prenatal screening for all pregnant women became conceivable, the potential increase in scale made social and ethical concerns relevant for the whole of soc…
Lay perceptions of predictive testing for diabetes based on DNA test results versus family history assessment
The results suggest that most participants believe a predictive genetic test could be used in the prevention of multifactorial disorders, such as diabetes, but indicate points to consider before both these tests are applied. These considerations differ with regard to the method of assessment (DNA test or obtaining family history) and also differ from monogenic disorders
Validation of self-reported folic acid use in a multiethnic population
Objective To assess folic acid supplementation rates and validate the self-reporting of folic acid supplement use among pregnant women in a multiethnic cohort. Design Secondary analysis of a prospective cohort study. Setting Self-reported folic acid supplement use in the Amsterdam Born Children and their Development study cohort was compared with serum folate concentrations using non-parametric trend analysis and linear and logistic regression. S…
A case study of haemoglobinopathy screening in the Netherlands
Carrier screening in general never appeared high on the policy agenda. Registration of ethnicity remains sensitive caused by the current political climate. Complexities related to carrier screening are a challenge in Dutch healthcare. Whether carrier screening will be considered a valuable complementary strategy in the Netherlands, depends partly on participation of representatives of high-risk groups in policy making
Illness representations of type 2 diabetes patients are associated with perceptions of diabetes threat in relatives
In the fight against the type 2 diabetes epidemic, patients might be asked to discuss familial susceptibility to type 2 diabetes in their family. Illness representations of patients ( N = 546) were assessed to explore their impact on perceived type 2 diabetes threat in relatives. Reporting high type 2 diabetes burden, emotional impact and perceiving type 2 diabetes as an inheritable disease seemed to increase patients' family risk perception and …
Time trends in neural tube defects prevalence in relation to preventive strategies
OBJECTIVE: To examine time trends in neural tube defects (NTD) prevalence from 1987 to 1996 in relation to the primary prevention policies for folic acid supplementation strategies in different countries. DESIGN: Retrospective time trends analysis of NTD prevalence. SETTING: 11 birth defect registries of congenital malformations participating in the International Clearinghouse for Birth Defects Monitoring System, in the period from 1 July 1987 to…
Wealth and health in relation to birth defects mortality
Infant mortality is associated with poverty. Countries with higher per capita income have lower infant mortality rates.1 The most obvious reason for this is the burden of infant deaths attributable to potentially avoidable diseases, such as infectious diseases for which vaccines and drugs are available, but are not affordable for all. In rich countries, besides gross national product per head, income inequality is an important determinant of infa…
The Politics of Representation in the Governance of Emergent 'Secondary Use' Biobanks
There is an international discussion to transform the collection of dried blood spot (DBS) card collections resulting from neonatal public health screening programs into a kind of biobank through the formalization of their (prolonged) retention and by expanding their use in medical research and development (R&D) practices. Given the scale of neonatal heel prick screening, these blood samples are increasingly being considered as a wealth of biolog…
A case study of haemoglobinopathy screening in the Netherlands
Carrier screening in general never appeared high on the policy agenda. Registration of ethnicity remains sensitive caused by the current political climate. Complexities related to carrier screening are a challenge in Dutch healthcare. Whether carrier screening will be considered a valuable complementary strategy in the Netherlands, depends partly on participation of representatives of high-risk groups in policy making
Frequency of births with potentially avoidable serious chromosomal anomalies in EEC countries, 1979-1982
Child bearing at an early age and prenatal cytogenetic diagnosis in pregnant women of advanced age, combined with selective abortion, make it possible to avoid the birth of many children with serious chromosomal anomalies. To see how many of such births were still avoidable in Europe, data from 16 regional EUROCAT registers of congenital anomalies in nine EEC countries were analysed. In the period 1979-1982 about 30% of children with unbalanced a…
Periconceptional folic acid in The Netherlands in 1995. Socioeconomic differences
In November 1993 the Dutch Inspectorate of Public Health advised that all women planning a pregnancy should consume 0.5 mg of folic acid daily in the periconceptional period, that is from four weeks before conception until eight weeks thereafter. Thus the risk of fetal neural tube defects (NTD) would be reduced by 50%. As fortified foods were not available in the Netherlands because of legal restrictions, women were advised to take folic acid pil…
Maternal smoking and deformities of the foot
Maternal smoking and deformities of the foot: results of the EUROCAT Study. European Registries of Congenital Anomalies. J Reefhuis, H E de Walle, and M C CornelCopyRight https://doi.org/10.2105/AJPH.88.10.1554 Published Online: October 07, 2011
Time trends in neural tube defects prevalence in relation to preventive strategies
OBJECTIVE: To examine time trends in neural tube defects (NTD) prevalence from 1987 to 1996 in relation to the primary prevention policies for folic acid supplementation strategies in different countries. DESIGN: Retrospective time trends analysis of NTD prevalence. SETTING: 11 birth defect registries of congenital malformations participating in the International Clearinghouse for Birth Defects Monitoring System, in the period from 1 July 1987 to…
Wealth and health in relation to birth defects mortality
Infant mortality is associated with poverty. Countries with higher per capita income have lower infant mortality rates.1 The most obvious reason for this is the burden of infant deaths attributable to potentially avoidable diseases, such as infectious diseases for which vaccines and drugs are available, but are not affordable for all. In rich countries, besides gross national product per head, income inequality is an important determinant of infa…
Raising awareness of carrier testing for hereditary haemoglobinopathies in high-risk ethnic groups in the Netherlands
The "infotainment" programme may have a positive effect on people from high-risk groups, but informed general practitioners and midwives were reluctant to facilitate their patients' getting tested. Additional initiatives are needed to motivate primary care providers to facilitate haemoglobinopathy carrier testing for their patients from high-risk backgrounds
Community genetics. Its definition 2010
This paper presents a definition of the medical field of community genetics. It starts with a brief historical overview, defines the requirements for an adequate definition, presents the definition, and discusses the constituent parts of the definition
Autosomal recessive disease in children of consanguineous parents
This short communication deals with the questions of how to calculate the expected proportion of compound heterozygous patients among affected offspring of consanguineous parents, and how, from an observed proportion of compound heterozygotes, to calculate both the proportion of homozygotes not identical by descent and the frequency of pathogenic alleles in the population. This estimate of allele frequency may be useful when dealing with populati…
Where are you going, where have you been
In recent years, various private companies have been marketing and offering genetic tests directly to consumers. This article reviews the recent history of this commercial phenomenon. In particular, we discuss and describe the following subjects: (1) the factors that allowed for the creation of the direct-to-consumer (DTC) genetic testing (GT) market; (2) information regarding the size and potential success or failure of the DTC GT market; (3) re…
"I am pregnant and my husband has diabetes. Is there a risk for my child?" A qualitative study of questions asked by email about the role of genetic susceptibility to diabetes
Genetic information on diabetes provided by professionals or public health initiatives should address patients, as well as relatives and partners. In particular women are receptive to genetic information; they worry about the diabetes related health of (future) offspring. It seems important that information on the contribution of genetics to type 1 diabetes is more readily available. Considering the high prevalence of type 2 diabetes with strong …
The promises of genomic screening
New screening possibilities become available at a high rate, both useful and unsound possibilities. All screening programmes do harm, and only few have more advantages than disadvantages at reasonable cost. Horizon scanning is needed to identify those few possibilities with more pros than cons. Attunement is needed between actors involved: scientists developing new high-throughput screening techniques and treatment, health care workers, patients …
Connective tissue
Genetic screening and democracy
Recent decades have witnessed increasing possibilities for genetic testing and screening. In clinical genetics, the doctor's office defined a secluded space for discussion of sensitive reproductive options in cases of elevated risk for genetic disorders in individuals or their offspring. When prenatal screening for all pregnant women became conceivable, the potential increase in scale made social and ethical concerns relevant for the whole of soc…
Lay perceptions of predictive testing for diabetes based on DNA test results versus family history assessment
The results suggest that most participants believe a predictive genetic test could be used in the prevention of multifactorial disorders, such as diabetes, but indicate points to consider before both these tests are applied. These considerations differ with regard to the method of assessment (DNA test or obtaining family history) and also differ from monogenic disorders
Validation of self-reported folic acid use in a multiethnic population
Objective To assess folic acid supplementation rates and validate the self-reporting of folic acid supplement use among pregnant women in a multiethnic cohort. Design Secondary analysis of a prospective cohort study. Setting Self-reported folic acid supplement use in the Amsterdam Born Children and their Development study cohort was compared with serum folate concentrations using non-parametric trend analysis and linear and logistic regression. S…
A case study of haemoglobinopathy screening in the Netherlands
Carrier screening in general never appeared high on the policy agenda. Registration of ethnicity remains sensitive caused by the current political climate. Complexities related to carrier screening are a challenge in Dutch healthcare. Whether carrier screening will be considered a valuable complementary strategy in the Netherlands, depends partly on participation of representatives of high-risk groups in policy making
The challenge of implementing genetic tests with clinical utility while avoiding unsound applications
The Politics of Representation in the Governance of Emergent 'Secondary Use' Biobanks
There is an international discussion to transform the collection of dried blood spot (DBS) card collections resulting from neonatal public health screening programs into a kind of biobank through the formalization of their (prolonged) retention and by expanding their use in medical research and development (R&D) practices. Given the scale of neonatal heel prick screening, these blood samples are increasingly being considered as a wealth of biolog…
Using web-based familial risk information for diabetes prevention
NTR1938
Developing a framework for implementation of genetic services
The Dutch national summit on preconception care
Factors associated with not using folic acid supplements preconceptionally
Objective Neural tube defects are among the most common birth defects worldwide. Folic acid intake from one month before to three months after conception reduces the likelihood of neural tube defects by at least 50 %. Since 1995, several campaigns have been organised in the Netherlands which resulted in 51 % of pregnant women using folic acid supplements during the entire recommended period in the northern part of the Netherlands in 2005. Our res…
Illness representations of type 2 diabetes patients are associated with perceptions of diabetes threat in relatives
In the fight against the type 2 diabetes epidemic, patients might be asked to discuss familial susceptibility to type 2 diabetes in their family. Illness representations of patients ( N = 546) were assessed to explore their impact on perceived type 2 diabetes threat in relatives. Reporting high type 2 diabetes burden, emotional impact and perceiving type 2 diabetes as an inheritable disease seemed to increase patients' family risk perception and …
Effects of a simple educational intervention in well-baby clinics on women’s knowledge about and intake of folic acid supplements in the periconceptional period
Objective To test the hypothesis that a concise intervention to promote the preconception use of folic acid (FA) supplements among mothers who visit a well-baby clinic (WBC) for the 6-month check-up of their youngest child is effective. Effectiveness was measured as intention to use or actual use of FA supplements before a next pregnancy among women who expected to be pregnant within 0–12 months. Design Controlled intervention study with independ…
Genomics for all in the 21st century
As the field of genomics enters the second decade after the completion of the International Human Genome Project, human genomics research is still far from reflective of the ancestral diversity found in global populations. This special issue of the Journal of Community Genetics brings together a global perspective on the need for researchers and health care professionals to support achievable milestones that will enhance global ancestral diversit…
Medicine (32 works) · Public health (18 works) · Nursing (12 works) · BRCA gene mutations in cancer (11 works) · Political science (11 works) · Environmental health (10 works) · Biology (9 works) · Computer Science (9 works) · Family medicine (9 works) · Genetics (9 works)