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1.  Reflecting on Earlier Experiences with Unsolicited Findings: Points to Consider for Next-Generation Sequencing and Informed Consent in Diagnostics 
Human Mutation  2013;34(10):1322-1328.
High-throughput nucleotide sequencing (often referred to as next-generation sequencing; NGS) is increasingly being chosen as a diagnostic tool for cases of expected but unresolved genetic origin. When exploring a higher number of genetic variants, there is a higher chance of detecting unsolicited findings. The consequential increased need for decisions on disclosure of these unsolicited findings poses a challenge for the informed consent procedure. This article discusses the ethical and practical dilemmas encountered when contemplating informed consent for NGS in diagnostics from a multidisciplinary point of view. By exploring recent similar experiences with unsolicited findings in other settings, an attempt is made to describe what can be learned so far for implementing NGS in standard genetic diagnostics. The article concludes with a set of points to consider in order to guide decision-making on the extent of return of results in relation to the mode of informed consent. We hereby aim to provide a sound basis for developing guidelines for optimizing the informed consent procedure.
doi:10.1002/humu.22370
PMCID: PMC4285964  PMID: 23784691
high-throughput nucleotide sequencing; incidental findings; unsolicited findings; diagnosis; informed consent
2.  Developing a framework for implementation of genetic services: learning from examples of testing for monogenic forms of common diseases 
Journal of Community Genetics  2014;5(4):337-347.
Genetics in health care is shifting, and responsibilities of genetic and nongenetic specialists are changing, requiring new guidance on how to adapt health care to advances in genetic services. This paper explores facilitators and barriers in the process of implementation of innovations in genetic health care. Furthermore, lessons learnt for optimizing development of new genetic services are summarized. Barriers and facilitators in transition processes were identified using mixed methods, including an online open-ended questionnaire among professionals and an international expert meeting. A multi-case study approach was used to explore recent experiences with innovations in genetic services in different phases of implementation. Barriers encountered in transitions in genetic service provision include the following: lack of genetic knowledge and skills among nongenetic health care providers, resistance to new divisions of responsibilities, and a need for more close collaboration and communication between geneticists and nongeneticists. Facilitating factors include the following: statutory registration of genetic specialists, availability of essential staff and equipment, and existence of registries and guidelines. Other challenges are experienced in the establishment of the appropriate legal and financial structures. A set of points to consider for genetic innovation processes is proposed, addressing, e.g., transition management and cooperation and communication strategies.
Electronic supplementary material
The online version of this article (doi:10.1007/s12687-014-0189-x) contains supplementary material, which is available to authorized users.
doi:10.1007/s12687-014-0189-x
PMCID: PMC4159469  PMID: 24895224
Genetic services; Translational medical research; Diffusion of innovation; Interdisciplinary communication; Genetic education
3.  Public attitudes towards genetic testing revisited: comparing opinions between 2002 and 2010 
Ten years after the Human Genome Project, medicine is still waiting for many of the promised benefits, and experts have tempered their high expectations. Public opinion on genetic testing has generally been favourable but is this still the case? The aim of this study is to compare public experiences, beliefs and expectations concerning genetic testing over the years (2002 vs 2010). A cross-sectional questionnaire survey was conducted using the Dutch Health Care Consumer Panel in 2002 and 2010. Responses to questions in identical wording were compared. In 2002 and 2010, 817 (63%) and 978 (70%) members responded, respectively. Awareness and reported use of genetic tests remained stable over time. In 2010, more respondents expected genetic testing to become more widely applied, believed that knowledge about the genetic background of disease helps people live longer, and that testing should be promoted more intensively. In 2010, they were also more interested in their own genetic make-up. On the one hand, the concern that a dichotomy would emerge between people with ‘good genes' and ‘bad genes' was higher. On the other hand, respondents thought that insurance companies would be less likely to demand a genetic test in order to calculate health insurance premiums. In conclusion, the results suggest that in 8 years, expectations of benefits and potential use of genetic testing have been raised among the public, resulting in more positive opinions. Worries on inequity remain, although worries about premium differentiation by insurance companies have decreased.
doi:10.1038/ejhg.2012.271
PMCID: PMC3722681  PMID: 23249955
genetic testing; experiences; public opinion; attitudes; expectations; beliefs
4.  Consanguineous marriage and reproductive risk: attitudes and understanding of ethnic groups practising consanguinity in Western society 
Consanguineous couples should be adequately informed about their increased reproductive risk and possibilities for genetic counselling. Information may only be effective if it meets the needs of the target group. This study aimed to gain more insight into: (1) attitudes of people belonging to ethnic groups in Western society towards consanguinity and their understanding of risk for offspring; and (2) their attitudes regarding reproductive information targeted at consanguineous couples. Dutch Moroccans and Turks were invited to complete an online questionnaire by snowball sampling and by placing a link on two popular Dutch Moroccan/Turkish forum websites between September and October 2011. The questionnaire was completed by 201 individuals who were, on average, neither positive nor negative towards consanguinity. Respondents with a consanguineous partner were more positive, estimated the risk for the offspring lower and were less positive about the provision of risk information to consanguineous couples when compared with respondents without a consanguineous partner. Participants of Turkish origin had a more negative attitude towards consanguinity and estimated the reproductive risk higher than Moroccan participants. More than half of the respondents thought that information should be given before marriage, whereas only 10% thought it should never be provided. The general practitioner was most often mentioned (54%) as the designated professional to inform people. Information about genetic risks related to consanguinity should be offered early, preferably before marriage. The diversity of the target population requires various strategies to disseminate information and reach consanguineous couples with the offer of genetic counselling.
doi:10.1038/ejhg.2013.167
PMCID: PMC3953897  PMID: 23921534
consanguinity; attitude; reproduction; genetic risk; ethnic groups
5.  Sustained effects of online genetics education: a randomized controlled trial on oncogenetics 
Medical professionals are increasingly expected to deliver genetic services in daily patient care. However, genetics education is considered to be suboptimal and in urgent need of revision and innovation. We designed a Genetics e-learning Continuing Professional Development (CPD) module aimed at improving general practitioners' (GPs') knowledge about oncogenetics, and we conducted a randomized controlled trial to evaluate the outcomes at the first two levels of the Kirkpatrick framework (satisfaction, learning and behavior). Between September 2011 and March 2012, a parallel-group, pre- and post-retention (6-month follow-up) controlled group intervention trial was conducted, with repeated measurements using validated questionnaires. Eighty Dutch GP volunteers were randomly assigned to the intervention or the control group. Satisfaction with the module was high, with the three item's scores in the range 4.1–4.3 (5-point scale) and a global score of 7.9 (10-point scale). Knowledge gains post test and at retention test were 0.055 (P<0.05) and 0.079 (P<0.01), respectively, with moderate effect sizes (0.27 and 0.31, respectively). The participants appreciated applicability in daily practice of knowledge aspects (item scores 3.3–3.8, five-point scale), but scores on self-reported identification of disease, referral to a specialist and knowledge about the possibilities/limitations of genetic testing were near neutral (2.7–2.8, five-point scale). The Genetics e-learning CPD module proved to be a feasible, satisfactory and clinically applicable method to improve oncogenetics knowledge. The educational effects can inform further development of online genetics modules aimed at improving physicians' genetics knowledge and could potentially be relevant internationally and across a wider range of potential audiences.
doi:10.1038/ejhg.2013.163
PMCID: PMC3925286  PMID: 23942200
genetics; health education; primary health care; online CPD; hereditary cancer
6.  Prioritization of future genetics education for general practitioners: a Delphi study 
Genetics in Medicine  2012;14(3):323-329.
Purpose:
General practitioners (GPs) are increasingly expected to deliver genetics services in daily patient care. Education in primary care genetics is considered suboptimal and in urgent need of revision and innovation. The aim of this study was to prioritize topics for genetics education for general practice.
Methods:
A Delphi consensus procedure consisting of three rounds was conducted. A purposively selected heterogeneous panel (n = 18) of experts, comprising six practicing GPs who were also engaged in research, five GP trainers, four clinical genetics professionals, and three representatives of patient organizations, participated. Educational needs regarding genetics in general practice in terms of knowledge, skills, and attitudes were rated and ranked in a top-10 list.
Results:
The entire panel completed all three rounds. Kendall's coefficient of concordance indicated significant agreement regarding the top 10 genetic education needs (P < 0.001). “Recognizing signals that are potentially indicative of a hereditary component of a disease” was rated highest, followed by “Evaluating indications for referral to a clinical genetics centre” and “Knowledge of the possibilities and limitations of genetic tests.”
Conclusions:
The priorities resulting from this study can inform the development of educational modules, including input for case-based education, to improve GP performance in genetic patient care.
doi:10.1038/gim.2011.15
PMCID: PMC3905703  PMID: 22241093
Delphi technique; general practice; genetics; health education; primary health care
7.  Using web-based familial risk information for diabetes prevention: a randomized controlled trial 
BMC Public Health  2013;13:485.
Background
It has been suggested that family history information may be effective in motivating people to adopt health promoting behaviour. The aim was to determine if diabetic familial risk information by using a web-based tool leads to improved self-reported risk-reducing behaviour among individuals with a diabetic family history, without causing false reassurance among those without a family history.
Methods
An online sample of 1,174 healthy adults aged 35–65 years with a BMI ≥ 25 was randomized into two groups receiving an online diabetes risk assessment. Both arms received general tailored diabetes prevention information, whilst the intervention arm also received familial risk information after completing a detailed family history questionnaire. Separate analysis was performed for four groups (family history group: 286 control versus 288 intervention group; no family history: 269 control versus 266 intervention group). Primary outcomes were self-reported behavioural outcomes: fat intake, physical activity, and attitudes towards diabetes testing. Secondary outcomes were illness and risk perceptions.
Results
For individuals at familial risk there was no overall intervention effect on risk-reducing behaviour after three months, except for a decrease in self-reported saturated fat intake among low-educated individuals (Beta (b) -1.01, 95% CI −2.01 to 0.00). Familial risk information resulted in a decrease of diabetes risk worries (b −0.21, -0.40 to −0.03). For individuals without family history no effect was found on risk-reducing behaviour and perceived risk. A detailed family history assessment resulted in a greater percentage of individuals reporting a familial risk for diabetes compared to a simple enquiry.
Conclusions
Web-based familial risk information reduced worry related to diabetes risk and decreased saturated fat intake of those at greatest need of preventative care. However, the intervention was not effective for the total study population on improving risk-reducing behaviour. The emphasis on familial risk does not seem to result in false reassurance among individuals without family history. Additionally, a detailed family history questionnaire identifies more individuals at familial risk than a simple enquiry.
Trial registration
NTR1938
doi:10.1186/1471-2458-13-485
PMCID: PMC3711930  PMID: 23683372
Family history; Type 2 diabetes; Prevention; Common chronic diseases; Risk assessment
8.  The effectiveness of a graphical presentation in addition to a frequency format in the context of familial breast cancer risk communication: a multicenter controlled trial 
Background
Inadequate understanding of risk among counselees is a common problem in familial cancer clinics. It has been suggested that graphical displays can help counselees understand cancer risks and subsequent decision-making. We evaluated the effects of a graphical presentation in addition to a frequency format on counselees’ understanding, psychological well-being, and preventive intentions.
Design: Multicenter controlled trial.
Setting: Three familial cancer clinics in the Netherlands.
Methods
Participants: Unaffected women with a breast cancer family history (first-time attendees).
Intervention: Immediately after standard genetic counseling, an additional consultation by a trained risk counselor took place where women were presented with their lifetime breast cancer risk in frequency format (X out of 100) (n = 63) or frequency format plus graphical display (10 × 10 human icons) (n = 91).
Main outcome measures: understanding of risk (risk accuracy, risk perception), psychological well-being, and intentions regarding cancer prevention. Measurements were assessed using questionnaires at baseline, 2-week and 6-month follow-up.
Results
Baseline participant characteristics did not differ between the two groups. In both groups there was an increase in women’s risk accuracy from baseline to follow-up. No significant differences were found between women who received the frequency format and those who received an additional graphical display in terms of understanding, psychological well-being and intentions regarding cancer prevention. The groups did not differ in their evaluation of the process of counseling.
Conclusion
Women’s personal risk estimation accuracy was generally high at baseline and the results suggest that an additional graphical display does not lead to a significant benefit in terms of increasing understanding of risk, psychological well-being and preventive intentions.
Trial registration
Current Controlled Trials http://ISRCTN14566836
doi:10.1186/1472-6947-13-55
PMCID: PMC3644257  PMID: 23627498
Breast cancer; Genetic counseling; Risk communication; Risk perception; Cancer worry; Decision-making; Graphical display
9.  Ethnicity, educational level and attitudes contribute to parental intentions about genetic testing for child obesity 
Journal of Community Genetics  2013;4(2):243-250.
The objective of this paper is to assess parental beliefs and intentions about genetic testing for their children in a multi-ethnic population with the aim of acquiring information to guide interventions for obesity prevention and management. A cross-sectional survey was conducted in parents of native Dutch children and children from a large minority population (Turks) selected from Youth Health Care registries. The age range of the children was 5–11 years. Parents with lower levels of education and parents of non-native children were more convinced that overweight has a genetic cause and their intentions to test the genetic predisposition of their child to overweight were firmer. A firmer intention to test the child was associated with the parents’ perceptions of their child’s susceptibility to being overweight, a positive attitude towards genetic testing, and anticipated regret at not having the child tested while at risk for overweight. Interaction effects were found in ethnic and socio-economic groups. Ethnicity and educational level play a role in parental beliefs about child overweight and genetic testing. Education programmes about obesity risk, genetic testing and the importance of behaviour change should be tailored to the cultural and behavioural factors relevant to ethnic and socio-economic target groups.
doi:10.1007/s12687-013-0137-1
PMCID: PMC3666838  PMID: 23389423
Genetics; Attitude; Health promotion; Obesity; Child
10.  Attitudes of general practitioners and midwives towards ethnicity-based haemoglobinopathy-carrier screening 
European Journal of Human Genetics  2012;20(11):1112-1117.
Haemoglobinopathies (HbP) are severe autosomal recessive disorders with high prevalence among certain ethnic groups. World Health Organisation (WHO) advises implementing screening programmes for risk groups. Research in the Netherlands has shown that general practitioners and midwives do not perceive ethnicity as a risk factor for HbP. Moreover, registration of ethnicity is a controversial societal issue, which may complicate the introduction of a national preconception or antenatal carrier screening programme. This study investigates attitudes, intention and behaviour of general practitioners and midwives towards ethnicity-based HbP-carrier screening in general. A structured questionnaire based on the Theory of Planned Behaviour was sent by mail to a random selection of 2100 general practitioners and 1800 primary care midwives. Response was 35% (midwives 44.2% GPs 27.6%). Although 45% of respondents thought that offering a carrier test on the basis of ethnicity alone should become national policy, it is currently not carried out. The main factor explaining lack of intention towards ethnicity-based HbP-carrier screening was subjective norm, the perception that their peers do not think they should offer screening (52.2% variance explained). If ethnicity-based HbP-carrier screening would become national policy, most professionals report that they would carry this out. Most respondents favoured ethnicity registration for health purposes. As most practitioners look for role models among peers, debate among general practitioners and midwives should be encouraged when new policy is to be developed, articulating the voices of colleagues who already actively offer HbP-carrier screening. Moreover, primary care professionals and professional organisations need support of policy at national level.
doi:10.1038/ejhg.2012.72
PMCID: PMC3476713  PMID: 22549405
haemoglobinopathies; ethnicity; carrier screening; primary care; attitude; Theory of Planned Behaviour
11.  Challenges in the care for consanguineous couples: an exploratory interview study among general practitioners and midwives 
BMC Family Practice  2012;13:105.
Background
It is often suggested that an effort must be made to increase awareness among consanguineous couples of their reproductive risk, and to refer them for genetic counseling if needed. Primary care professionals are considered most appropriate for addressing the subject and identifying couples at risk during consultations in their practice. This Dutch study aims to explore the experiences, attitudes and beliefs of such professionals regarding their care for consanguineous couples.
Methods
Sixteen semi-structured interviews were conducted with midwives and general practitioners.
Results
Although most primary care professionals considered it their task to inform couples about the risks of consanguinity, during consultations the topic was generally only briefly touched upon and quickly abandoned. Important reasons for this were professionals’ beliefs about religious and social values of couples, their low perception of the couples’ reproductive risk and expected limited feasibility of referral. Feelings of embarrassment regarding addressing consanguinity did not seem to play a significant role.
Conclusions
Primary care professional beliefs about their clients’ religious and social values, their attitudes toward the risk, and perceived limited options for referral seem to conflict with the professional norm to address the topic of consanguinity.
doi:10.1186/1471-2296-13-105
PMCID: PMC3515342  PMID: 23102514
Consanguinity; Primary care; Risk communication; Cultural barriers; Preconception and prenatal care
12.  Ethnic differences and parental beliefs are important for overweight prevention and management in children: a cross-sectional study in the Netherlands 
BMC Public Health  2012;12:867.
Background
The prevalence of obesity and overweight is highest among ethnic minority groups in Western countries. The objective of this study is to examine the contribution of ethnicity and beliefs of parents about overweight preventive behaviours to their child’s outdoor play and snack intake, and to the parents’ intention to monitor these behaviours.
Methods
A cross-sectional survey was conducted among parents of native Dutch children and children from a large minority population (Turks) at primary schools, sampled from Youth Health Care registers.
Results
Native Dutch parents observed more outdoor play and lower snack intake in their child and had stronger intentions to monitor these behaviours than parents of Turkish descent. In the multivariate analyses, the parents’ attitude and social norm were the main contributing factors to the parental intention to monitor the child’s outdoor play and snack intake. Parental perceived behavioural control contributed to the child’s outdoor play and, in parents who perceived their child to be overweight, to snacking behaviour. The associations between parents’ behavioural cognitions and overweight related preventive behaviours were not modified by ethnicity, except for perceived social norm. The relationship between social norm and intention to monitor outdoor play was stronger in Dutch parents than in Turkish parents.
Conclusions
As the overweight related preventive behaviours of both children and parents did differ between the native and ethnic minority populations of this study, it is advised that interventions pay attention to cultural aspects of the targeted population. Further research is recommended into parental behavioural cognitions regarding overweight prevention and management for different ethnicities.
doi:10.1186/1471-2458-12-867
PMCID: PMC3508795  PMID: 23057582
Child obesity; Overweight; Culture; Health promotion
13.  Causal Beliefs and Perceptions of Risk for Diabetes and Cardiovascular Disease, the Netherlands, 2007 
Preventing Chronic Disease  2011;8(6):A130.
Introduction
Understanding people's perceptions of disease risk and how these perceptions compare with actual risk models may improve the effectiveness of risk communication. This study examined perceived disease risk and causal beliefs for type 2 diabetes and cardiovascular disease (CVD), the relationship between self-reported risk factors and perceived disease risk, and the influence of causal beliefs on perceived disease risk in people at increased risk.
Methods
The sample (n = 255) consisted of people who were at increased risk for diabetes and CVD (aged 57-79 y). Participants completed a postal questionnaire assessing risk factors, perceived risk, and causal beliefs for diabetes and CVD. We used regression analyses to examine the relationship between risk factors and perceived disease risk and to explore how causal beliefs affect the relationship between risk factors and perceived disease risk.
Results
Associations between risk factors and perceived diabetes and CVD risks were weak. Perceived risk, causal beliefs, and explained variance of risk factors on perceived risk were lower for diabetes than for CVD. Stronger beliefs concerning 1) overweight as a cause of diabetes and 2) smoking as a cause of CVD strengthened the association between these risk factors and perceived disease risk.
Conclusion
Although participants seemed to have some understanding of disease causation, they only partially translated their risk factors into accurate perceptions of risk. To improve understanding of risk information, health professionals may need to educate patients on how personal risk factors can contribute to the development of diabetes and CVD.
PMCID: PMC3221572  PMID: 22005623
14.  Lay perceptions of predictive testing for diabetes based on DNA test results versus family history assessment: a focus group study 
BMC Public Health  2011;11:535.
Background
This study assessed lay perceptions of issues related to predictive genetic testing for multifactorial diseases. These perceived issues may differ from the "classic" issues, e.g. autonomy, discrimination, and psychological harm that are considered important in predictive testing for monogenic disorders. In this study, type 2 diabetes was used as an example, and perceptions with regard to predictive testing based on DNA test results and family history assessment were compared.
Methods
Eight focus group interviews were held with 45 individuals aged 35-70 years with (n = 3) and without (n = 1) a family history of diabetes, mixed groups of these two (n = 2), and diabetes patients (n = 2). All interviews were transcribed and analysed using Atlas-ti.
Results
Most participants believed in the ability of a predictive test to identify people at risk for diabetes and to motivate preventive behaviour. Different reasons underlying motivation were considered when comparing DNA test results and a family history risk assessment. A perceived drawback of DNA testing was that diabetes was considered not severe enough for this type of risk assessment. In addition, diabetes family history assessment was not considered useful by some participants, since there are also other risk factors involved, not everyone has a diabetes family history or knows their family history, and it might have a negative influence on family relations. Respect for autonomy of individuals was emphasized more with regard to DNA testing than family history assessment. Other issues such as psychological harm, discrimination, and privacy were only briefly mentioned for both tests.
Conclusion
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.
doi:10.1186/1471-2458-11-535
PMCID: PMC3155914  PMID: 21729316
15.  Preconceptional genetic carrier testing and the commercial offer directly-to-consumers 
Recently, a number of commercial companies are offering preconceptional carrier tests directly-to-consumers. This offer raises a number of concerns and issues above and beyond those encountered with preconceptional tests offered within the traditional health care setting. In order to bring some of these issues to light and to initiate dialogue on this topic, this article discusses the following issues: the current offer of preconceptional carrier tests (until the end of 2010) through online commercial companies; the implications for the informed consent procedure and the need for good information; the need for medical supervision and follow-up; and the appropriate use of existing resources. The article concludes with some reflections about the potential sustainability of the offer of preconceptional carrier tests directly-to-consumers.
doi:10.1093/humrep/der042
PMCID: PMC3079469  PMID: 21362685
preconception care; carrier testing; direct-to-consumer
16.  Genetic educational needs and the role of genetics in primary care: a focus group study with multiple perspectives 
BMC Family Practice  2011;12:5.
Background
Available evidence suggests that improvements in genetics education are needed to prepare primary care providers for the impact of ongoing rapid advances in genomics. Postgraduate (physician training) and master (midwifery training) programmes in primary care and public health are failing to meet these perceived educational needs. The aim of this study was to explore the role of genetics in primary care (i.e. family medicine and midwifery care) and the need for education in this area as perceived by primary care providers, patient advocacy groups and clinical genetics professionals.
Methods
Forty-four participants took part in three types of focus groups: mono-disciplinary groups of general practitioners and midwives, respectively and multidisciplinary groups composed of a diverse set of experts. The focus group sessions were audio-taped, transcribed verbatim and analysed using content analysis. Recurrent themes were identified.
Results
Four themes emerged regarding the educational needs and the role of genetics in primary care: (1) genetics knowledge, (2) family history, (3) ethical dilemmas and psychosocial effects in relation to genetics and (4) insight into the organisation and role of clinical genetics services. These themes reflect a shift in the role of genetics in primary care with implications for education. Although all focus group participants acknowledged the importance of genetics education, general practitioners felt this need more urgently than midwives and more strongly emphasized their perceived knowledge deficiencies.
Conclusion
The responsibilities of primary care providers with regard to genetics require further study. The results of this study will help to develop effective genetics education strategies to improve primary care providers' competencies in this area. More research into the educational priorities in genetics is needed to design courses that are suitable for postgraduate and master programmes for general practitioners and midwives.
doi:10.1186/1471-2296-12-5
PMCID: PMC3053218  PMID: 21329524
17.  Do consanguineous parents of a child affected by an autosomal recessive disease have more DNA identical-by-descent than similarly-related parents with healthy offspring? Design of a case-control study 
BMC Medical Genetics  2010;11:113.
Background
The offspring of consanguineous relations have an increased risk of congenital/genetic disorders and early mortality. Consanguineous couples and their offspring account for approximately 10% of the global population. The increased risk for congenital/genetic disorders is most marked for autosomal recessive disorders and depends on the degree of relatedness of the parents. For children of first cousins the increased risk is 2-4%. For individual couples, however, the extra risk can vary from zero to 25% or higher, with only a minority of these couples having an increased risk of at least 25%. It is currently not possible to differentiate between high-and low-risk couples. The quantity of DNA identical-by-descent between couples with the same degree of relatedness shows a remarkable variation. Here we hypothesize that consanguineous partners with children affected by an autosomal recessive disease have more DNA identical-by-descent than similarly-related partners who have only healthy children. The aim of the study is thus to establish whether the amount of DNA identical-by-descent in consanguineous parents of children with an autosomal recessive disease is indeed different from its proportion in consanguineous parents who have healthy children only.
Methods/Design
This project is designed as a case-control study. Cases are defined as consanguineous couples with one or more children with an autosomal recessive disorder and controls as consanguineous couples with at least three healthy children and no affected child. We aim to include 100 case couples and 100 control couples. Control couples are matched by restricting the search to the same family, clan or ethnic origin as the case couple. Genome-wide SNP arrays will be used to test our hypothesis.
Discussion
This study contains a new approach to risk assessment in consanguineous couples. There is no previous study on the amount of DNA identical-by-descent in consanguineous parents of affected children compared to the consanguineous parents of healthy children. If our hypothesis proves to be correct, further studies are needed to obtain different risk figure estimates for the different proportions of DNA identical-by-descent. With more precise information about their risk status, empowerment of couples can be improved when making reproductive decisions.
doi:10.1186/1471-2350-11-113
PMCID: PMC3161348  PMID: 20637082
18.  Using family history information to promote healthy lifestyles and prevent diseases; a discussion of the evidence 
BMC Public Health  2010;10:248.
Background
A family history, reflecting genetic susceptibility as well as shared environmental and behavioral factors, is an important risk factor for common chronic multifactorial diseases such as cardiovascular diseases, type 2 diabetes and many cancers.
Discussion
The purpose of the present paper is to discuss the evidence for the use of family history as a tool for primary prevention of common chronic diseases, in particular for tailored interventions aimed at promoting healthy lifestyles. The following questions are addressed: (1) What is the value of family history information as a determinant of personal disease risk?; (2)How can family history information be used to motivate at-risk individuals to adopt and maintain healthy lifestyles in order to prevent disease?; and (3) What additional studies are needed to assess the potential value of family history information as a tool to promote a healthy lifestyle?
Summary
In addition to risk assessment, family history information can be used to personalize health messages, which are potentially more effective in promoting healthy lifestyles than standardized health messages. More research is needed on the evidence for the effectiveness of such a tool.
doi:10.1186/1471-2458-10-248
PMCID: PMC2875210  PMID: 20465810
19.  Impact of Communicating Familial Risk of Diabetes on Illness Perceptions and Self-Reported Behavioral Outcomes 
Diabetes Care  2009;32(4):597-599.
OBJECTIVE
To assess the potential effectiveness of communicating familial risk of diabetes on illness perceptions and self-reported behavioral outcomes.
RESEARCH DESIGN AND METHODS
Individuals with a family history of diabetes were randomized to receive risk information based on familial and general risk factors (n = 59) or general risk factors alone (n = 59). Outcomes were assessed using questionnaires at baseline, 1 week, and 3 months.
RESULTS
Compared with individuals receiving general risk information, those receiving familial risk information perceived heredity to be a more important cause of diabetes (P < 0.01) at 1-week follow-up, perceived greater control over preventing diabetes (P < 0.05), and reported having eaten more healthily (P = 0.01) after 3 months. Behavioral intentions did not differ between the groups.
CONCLUSIONS
Communicating familial risk increased personal control and, thus, did not result in fatalism. Although the intervention did not influence intentions to change behavior, there was some evidence to suggest it increases healthy behavior.
doi:10.2337/dc08-1049
PMCID: PMC2660460  PMID: 19131458
20.  Autosomal recessive disease in children of consanguineous parents: inferences from the proportion of compound heterozygotes 
Journal of Community Genetics  2010;1(1):37-40.
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 populations with a considerable number of consanguineous matings.
doi:10.1007/s12687-010-0002-4
PMCID: PMC3063838  PMID: 21475666
Consanguinity; Compound heterozygosity; Allele frequency; Identity by descent; Identity by state; Estimation
21.  Autosomal recessive disease in children of consanguineous parents: inferences from the proportion of compound heterozygotes 
Journal of Community Genetics  2010;1(1):37-40.
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 populations with a considerable number of consanguineous matings.
doi:10.1007/s12687-010-0002-4
PMCID: PMC3063838  PMID: 21475666
Consanguinity; Compound heterozygosity; Allele frequency; Identity by descent; Identity by state; Estimation
22.  Preconceptional ancestry-based carrier couple screening for cystic fibrosis and haemoglobinopathies: what determines the intention to participate or not and actual participation? 
European Journal of Human Genetics  2009;17(8):999-1009.
This paper explores determinants of the intention to participate or not and of actual participation in preconceptional ancestry-based carrier couple screening for cystic fibrosis (CF) and haemoglobinopathies (HbPs). In total, 9453 individuals from a multi-ethnic population were invited. Invitees who had a partner and who were planning a pregnancy were the target population (33–36%). Test participation was conditional on survey participation. Those who refrained from test participation were asked to participate in the survey only. The questionnaire was based on the Theory of Planned Behaviour, which explains behaviour through intention. It was completed by 418 survey participants: 171 who intended to participate in the testing, and 247 who refrained from test participation. Both test intenders and offer decliners generally had a positive attitude towards test participation, and perceived high behavioural control. This applied to Western and non-Western survey participants equally. Offer decliners, however, perceived less control in terms of the time and effort needed for participation. Still, 68% of them intended to participate in the future if the screening would be offered routinely. Test intenders more often would draw reproductive consequences from test results, perceived a higher risk of being a carrier, more benefits and less adverse psychological outcomes. Feelings of stigmatisation were not an important issue, but 14% thought that there would be discrimination against carriers: among them more were non-Western survey participants. Preconceptional ancestry-based CF and HbPs carrier screening was evaluated as positive and desirable among Western and non-Western survey participants. The effort and time needed for participation were important reasons for declining participation, which might be overcome by improving access to the screening.
doi:10.1038/ejhg.2009.1
PMCID: PMC2986548  PMID: 19223934
preconceptional; carrier screening; cystic fibrosis; haemoglobinopathies; ancestry; participation
23.  Family History of Diabetes: Exploring Perceptions of People at Risk in the Netherlands 
Preventing Chronic Disease  2009;6(2):A54.
Introduction
The aim of this study was to explore the perceptions of causes, risk, and control with regard to diabetes and the role of family history among people at increased risk for type 2 diabetes.
Methods
Semistructured interviews were conducted among people aged 57 to 72 years with (n = 9) and without (n = 12) a family history of diabetes.
Results
Participants mentioned different causes for diabetes; these were often a combination of genetic and behavioral factors. Some participants with a family history expressed incoherent causal beliefs; their general ideas about the causes of diabetes did not explain why their relatives were affected. The role of genetics as a cause for diabetes was more pronounced when people perceived diabetes as "running in the family," and this finding did not necessarily relate to a high number of affected relatives. Although people with a family history were aware of the diabetes in their family, they did not always associate their family history with increased risk, nor did they worry about getting diabetes. The absence of diabetes in the family was often used as a reason to perceive a low risk. Participants who primarily perceived genetic predisposition as a cause felt less able to prevent getting diabetes.
Conclusion
Future diabetes prevention strategies would benefit from giving more attention to individual perceptions, especially in the context of family history, explaining the multifactorial character of diabetes, and highlighting effective ways to reduce the risk.
PMCID: PMC2687860  PMID: 19288997
24.  Design of the BRISC study: a multicentre controlled clinical trial to optimize the communication of breast cancer risks in genetic counselling 
BMC Cancer  2008;8:283.
Background
Understanding risks is considered to be crucial for informed decision-making. Inaccurate risk perception is a common finding in women with a family history of breast cancer attending genetic counseling. As yet, it is unclear how risks should best be communicated in clinical practice. This study protocol describes the design and methods of the BRISC (Breast cancer RISk Communication) study evaluating the effect of different formats of risk communication on the counsellee's risk perception, psychological well-being and decision-making regarding preventive options for breast cancer.
Methods and design
The BRISC study is designed as a pre-post-test controlled group intervention trial with repeated measurements using questionnaires. The intervention-an additional risk consultation-consists of one of 5 conditions that differ in the way counsellee's breast cancer risk is communicated: 1) lifetime risk in numerical format (natural frequencies, i.e. X out of 100), 2) lifetime risk in both numerical format and graphical format (population figures), 3) lifetime risk and age-related risk in numerical format, 4) lifetime risk and age-related risk in both numerical format and graphical format, and 5) lifetime risk in percentages. Condition 6 is the control condition in which no intervention is given (usual care). Participants are unaffected women with a family history of breast cancer attending one of three participating clinical genetic centres in the Netherlands.
Discussion
The BRISC study allows for an evaluation of the effects of different formats of communicating breast cancer risks to counsellees. The results can be used to optimize risk communication in order to improve informed decision-making among women with a family history of breast cancer. They may also be useful for risk communication in other health-related services.
Trial registration
Current Controlled Trials ISRCTN14566836.
doi:10.1186/1471-2407-8-283
PMCID: PMC2576334  PMID: 18834503
25.  Parents' perceived vulnerability and perceived control in preventing Meningococcal C infection: a large-scale interview study about vaccination 
BMC Public Health  2008;8:45.
Background
Parents' reported ambivalence toward large-scale vaccination programs for childhood diseases may be related to their perception of the risks of side-effects or safety of vaccination and the risk of contracting the disease. The aim of this study is to evaluate parents' perceptions of their child's risk contracting a Meningococcal C infection and parents' perceived control in preventing infection in relation to their evaluation of the safety, effectiveness and usefulness of vaccination.
Methods
In a large-scale interview study, a random sample of parents was interviewed after their children had received vaccination against Meningococcal C in a catch-up campaign. Questions were asked about the perceived relative vulnerability of their child contracting an infection, perceived control in preventing an infection, and parents' evaluation of the safety, usefulness and effectiveness of vaccination.
Results
61% of 2910 (N = 1763) parents who were approached participated. A higher perceived relative vulnerability of their own child contracting the disease was related to a more positive evaluation of the vaccination campaign, while a lower perceived vulnerability did not result in a more negative evaluation. A higher perceived control in being able to prevent an infection was, however, related to a more critical attitude toward the safety, usefulness and effectiveness of vaccination.
Conclusion
Perceived relative vulnerability contracting an infection and parents' perceived control in preventing an infection seem to influence parents' evaluation of the vaccination programme. Future studies should determine if, and under which circumstances, these perceptions also affect parents' vaccination behaviour and would be relevant to be taken into account when educating parents about vaccination.
doi:10.1186/1471-2458-8-45
PMCID: PMC2279114  PMID: 18241345

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