Lidewij Henneman

Deficiency of knowledge of genetics and genetic tests among general practitioners, gynecologists, and pediatricians: A global problem

Purpose: The objective of this study was to assess knowledge of genetics and awareness of genetic tests among Dutch general practitioners (GPs), gynecologists (GYNs), and pediatricians (PEDs), as well as factors influencing their knowledge and awareness.Methods: An anonymous questionnaire inquiry was used, validated with a sample of 52 clinical geneticists (CGs). The study was carried out in primary care (general practice) and secondary care (general and university hospitals) in The Netherlands. A random sample of 200 GPs, 300 GYNs, and 265 PEDs received a questionnaire. In addition, all registered CGs (58) received a questionnaire for validation. In total, 122 GPs, 187 GYNs, 164 PEDs, and 52 CGs returned a completed questionnaire. The main outcome measures were differences in knowledge scores between physicians working in different disciplines and factors influencing these scores.Results: Knowledge scores of GPs (mean 64% correct answers, 61%–66% [95% confidence interval]), GYNs (mean 75% correct answers, 73%–76% [95% confidence interval]), and PEDs (mean 81% correct answers, 79%–82% [95% confidence interval]) were lower than those in the CG validation group (mean 95% correct answers, 94%–96% [95% confidence interval]). The 5th percentile of GPs, GYNs, and PEDs was at approximately 40%, 52% and 62% correct answers, respectively. There was a specific lack of knowledge about DNA testing. In addition to specialty, important factors positively associated with the knowledge scores of nongeneticists are more recent graduation, having taken an elective course in genetics, and providing genetic counseling in their own practice.Conclusion: The overall knowledge levels of genetics in many nongeneticist health care providers show clear deficiencies. This is in line with reports from other countries, showing that these deficiencies are a global problem.

Public Experiences, Knowledge and Expectations about Medical Genetics and the Use of Genetic Information

Objective: The objectives of this study were (1) to explore public experiences, genetic knowledge, expectations of future medical genetic developments, and the attitudes towards the use of genetic information, and (2) to determine whether there are subject characteristics associated with these variables. Methods: Participants (n = 1,308, age ≧25 years) of a Dutch consumer panel were sent a questionnaire, specifically designed for this study. Results: Response was 63% (817/1,308). A minority of respondents reported to know someone with a hereditary disease (34%) or to have used a genetic test (8%). Overall, 57% perceived a lack of genetic knowledge. In multivariate analyses, high self-rated knowledge, younger age, having heard of genetic testing, high educational level, female gender, having children living at home, being a health professional, and familiarity with genetic testing were positively associated with genetic knowledge. Future expectations of the consequences of developments in medical genetics varied between the subjects. The great majority expected great benefits for medical practice such as an increasing use of genetic aspects of disease for diagnosis or prevention. One fifth, mainly older people, anticipated a negative impact of genetic developments on society. The results also show that most people are reserved to share their genetic information with others, especially with regard to the wider public domain (e.g. industry and insurers) and employers. Remarkably, respondents were more willing to share their genetic information with scientific researchers (68%) than with their relatives (54%). Conclusion: This study suggests that although one fifth anticipates negative consequences of genetic developments, the great majority has high expectations about the increasing use of genetics in prevention, diagnosis and treatment of diseases. In developing educational programmes about genetic innovations in medicine, policymakers will have to take into account pre-existing lay knowledge, views and expectations of different groups of citizens towards these developments.

Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening.

This paper contains a joint ESHG/ASHG position document with recommendations regarding responsible innovation in prenatal screening with non-invasive prenatal testing (NIPT). By virtue of its greater accuracy and safety with respect to prenatal screening for common autosomal aneuploidies, NIPT has the potential of helping the practice better achieve its aim of facilitating autonomous reproductive choices, provided that balanced pretest information and non-directive counseling are available as part of the screening offer. Depending on the health-care setting, different scenarios for NIPT-based screening for common autosomal aneuploidies are possible. The trade-offs involved in these scenarios should be assessed in light of the aim of screening, the balance of benefits and burdens for pregnant women and their partners and considerations of cost-effectiveness and justice. With improving screening technologies and decreasing costs of sequencing and analysis, it will become possible in the near future to significantly expand the scope of prenatal screening beyond common autosomal aneuploidies. Commercial providers have already begun expanding their tests to include sex-chromosomal abnormalities and microdeletions. However, multiple false positives may undermine the main achievement of NIPT in the context of prenatal screening: the significant reduction of the invasive testing rate. This document argues for a cautious expansion of the scope of prenatal screening to serious congenital and childhood disorders, only following sound validation studies and a comprehensive evaluation of all relevant aspects. A further core message of this document is that in countries where prenatal screening is offered as a public health programme, governments and public health authorities should adopt an active role to ensure the responsible innovation of prenatal screening on the basis of ethical principles. Crucial elements are the quality of the screening process as a whole (including non-laboratory aspects such as information and counseling), education of professionals, systematic evaluation of all aspects of prenatal screening, development of better evaluation tools in the light of the aim of the practice, accountability to all stakeholders including children born from screened pregnancies and persons living with the conditions targeted in prenatal screening and promotion of equity of access.

Using family history information to promote healthy lifestyles and prevent diseases; a discussion of the evidence.

BackgroundA 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.DiscussionThe 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?SummaryIn 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.

Perceived risk and representations of cardiovascular disease and preventive behaviour in people diagnosed with familial hypercholesterolemia a cross-sectional questionnaire study

Perceived risk and representations of cardiovascular disease (CVD), and preventive behaviour of people diagnosed with Familial Hypercholesterolemia by DNA testing (N = 81) were assessed. In general, participants perceived their own CVD risk as being relatively low. While participants reported almost optimal medication adherence (99%), only 49 per cent reported following recommendations concerning diet and physical activity. Family history of CVD was associated with both risk perception and the adoption of a healthy lifestyle. In their communications with FH-screened positives, health professionals should be aware that people may underestimate CVD risk, and should stress how behaviour change can reduce the risk.

Deficient knowledge of genetics relevant for daily practice among medical students nearing graduation.

Purpose: The objective of this study was to investigate whether the knowledge of genetics relevant for daily practice among medical students nearing graduation in the Netherlands was sufficient to react appropriately to the change of relevance of genetics in medicine.Methods: A computer examination validated in a group of clinical geneticists, medical students nearing graduation, and nonmedical students. The examination consisted of 215 genetic questions classified by the designers into three categories of relevance: “essential” knowledge (requirement: > 95% correct answers), “desirable” knowledge (requirement: > 60% correct answers), and “too specialized” knowledge (no requirement). To set an independent standard, the questions were also judged by clinical geneticists and nongenetic health care providers in an Angoff procedure. In total, 291 medical students nearing graduation from seven out of the eight medical schools in the Netherlands participated.Results: As expected, the mean score for “essential” knowledge (71.63%, 95% CI 70.74–72.52) was higher than for “desirable” knowledge (55.99%, 95% CI 55.08–56.90); the mean score for “too specialized” knowledge (44.40%, 95% CI 43.19–45.62) was the lowest. According to passing scores set for “essential” knowledge as defined by the designers, the clinical geneticists, and the nongenetic health care providers, only 0%, 26%, and 3%, respectively, of the participants would have passed.Conclusions: Medical students nearing graduation lack genetic knowledge that is essential for daily practice. Therefore, changes should be made in the medical curricula.

Impact of Communicating Familial Risk of Diabetes on Illness Perceptions and Self-Reported Behavioral Outcomes A randomized controlled trial

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.

Attitudes of pregnant women and male partners towards non-invasive prenatal testing and widening the scope of prenatal screening

Non-invasive prenatal testing (NIPT) and its potential to test for multiple disorders has received much attention. This study explores attitudes of women and men towards NIPT, and their views on widening the scope of prenatal testing in a country with a low uptake of prenatal screening (The Netherlands). Five focus groups with low-risk pregnant women (n=28), three focus groups with men (n=19) and 13 interviews with high- and low-risk pregnant women were conducted. Participants felt that current prenatal screening has great disadvantages such as uncertain results and risk of miscarriage from follow-up diagnostics. Characteristics of NIPT (accurate, safe and early testing) could therefore diminish these disadvantages of prenatal screening and help lower the barrier for participation. This suggests that NIPT might allow couples to decide about prenatal testing based mostly on their will to test or not, rather than largely based on fear of miscarriage risk or the uncertainty of results. The lower barrier for participation was also seen as a downside that could lead to uncritical use or pressure to test. Widening the scope of prenatal testing was seen as beneficial for severe disorders, although it was perceived difficult to determine where to draw the line. Participants argued that there should be a limit to the scope of NIPT, avoiding testing for minor abnormalities. The findings suggest that NIPT could enable more meaningful decision-making for prenatal screening. However, to ensure voluntary participation, especially when testing for multiple disorders, safeguards on the basis of informed decision-making will be of utmost importance.

Responsible implementation of expanded carrier screening

This document of the European Society of Human Genetics contains recommendations regarding responsible implementation of expanded carrier screening. Carrier screening is defined here as the detection of carrier status of recessive diseases in couples or persons who do not have an a priori increased risk of being a carrier based on their or their partners’ personal or family history. Expanded carrier screening offers carrier screening for multiple autosomal and X-linked recessive disorders, facilitated by new genetic testing technologies, and allows testing of individuals regardless of ancestry or geographic origin. Carrier screening aims to identify couples who have an increased risk of having an affected child in order to facilitate informed reproductive decision making. In previous decades, carrier screening was typically performed for one or few relatively common recessive disorders associated with significant morbidity, reduced life-expectancy and often because of a considerable higher carrier frequency in a specific population for certain diseases. New genetic testing technologies enable the expansion of screening to multiple conditions, genes or sequence variants. Expanded carrier screening panels that have been introduced to date have been advertised and offered to health care professionals and the public on a commercial basis. This document discusses the challenges that expanded carrier screening might pose in the context of the lessons learnt from decades of population-based carrier screening and in the context of existing screening criteria. It aims to contribute to the public and professional discussion and to arrive at better clinical and laboratory practice guidelines.

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.