Technical report: Ethical and policy issues in genetic testing and screening of children

(1) Article 152 of the Treaty provides that Community action is to complement national policies and be directed towards improving public health, preventing human illness and diseases, and obviating sources of danger to human health. Such action shall cover the fight against the major health scourges, by promoting L 327/34 Official Journal of the European Union 16.12.2003 Population-based, Nationwide Rollout complete

Cancer screening in the European Union. Report on the implementation of the Council Recommendation on cancer screening.

The genetic testing and genetic screening of children are commonplace. Decisions about whether to offer genetic testing and screening should be driven by the best interest of the child. The growing literature on the psychosocial and clinical effects of such testing and screening can help inform best practices. This policy statement represents recommendations developed collaboratively by the American Academy of Pediatrics and the American College of Medical Genetics and Genomics with respect to many of the scenarios in which genetic testing and screening can occur.

https://pediatrics.aappublications.org/content/pediatrics/early/2013/02/17/peds.2012-3680.full.pdf

Ethical and Policy Issues in Genetic Testing and Screening of Children

Colorectal cancer (CRC) is the third most commonly diagnosed cancer in the world The incidence and mortality show wide geographical variations Screening is recommended to reduce both incidence and mortality However, there are significant differences among studies in implementation strategies and detection This review aimed to present the results and strategies of different screening programs worldwide We reviewed the literature on national and international screening programs published in PubMed, on web pages, and in clinical guidelines CRC Screening programs are currently underway in most European countries, Canada, specific regions in North and South America, Asia, and Oceania The most extensive screening strategies were based on fecal occult blood testing, and more recently, the fecal immunochemical test (FIT) Participation in screening has varied greatly among different programs The Netherlands showed the highest participation rate (682%) and some areas of Canada showed the lowest (16%) Participation rates were highest among women and in programs that used the FIT test Men exhibited the greatest number of positive results The FIT test has been the most widely used screening program worldwide The advent of this test has increased participation rates and the detection of positive results

Colorectal cancer population screening programs worldwide in 2016: An update.

Precision medicine promises the ability to identify risks and treat patients on the basis of pathogenic genetic variation. Two studies combined exome sequencing results for over 50,000 people with their electronic health records. Dewey et al. found that ∼3.5% of individuals in their cohort had clinically actionable genetic variants. Many of these variants affected blood lipid levels that could influence cardiovascular health. Abul-Husn et al. extended these findings to investigate the genetics and treatment of familial hypercholesterolemia, a risk factor for cardiovascular disease, within their patient pool. Genetic screening helped identify at-risk patients who could benefit from increased treatment.

Science , this issue p. [10.1126/science.aaf6814][1], p. [10.1126/science.aaf7000][2]

 [1]: /lookup/doi/10.1126/science.aaf6814
 [2]: /lookup/doi/10.1126/science.aaf7000

https://science.sciencemag.org/content/sci/354/6319/aaf7000.full.pdf

Genetic identification of familial hypercholesterolemia within a single U.S. health care system

In their landmark publication, the authors were fundamentally preoccupied with the notion that:“The central idea of early disease detec-tion and treatment is essentially simple. However, the path to its successful achievement (on the one hand, bring-ing to treatment those with previously undetected disease, and, on the other, avoiding harm to those persons not in need of treatment) is far from simple though sometimes it may appear de-ceptively easy.”For this reason, Wilson and Jungner at-tempted to define screening criteria to guide the selection of conditions that would be suitable for screening, based, among other factors, on the capacity to detect the condition at an early stage and the availability of an acceptable treatment (Box 1). They considered these criteria “especially important when case-finding is carried out by a public health agency, where the pitfalls may be more numerous than when screening is performed by a personal physician”.Just as forty years ago, Wilson and Jungner wrote their treatise amidst a great deal of controversy surrounding the early detection of disease, there are now similar debates with respect to genetic screening. A growing number of diseases can now be detected in the pre-clinical stage, and even in the pre-pathological stage, using molecular and non-molecular diagnostic techniques.Large-scale screening for genetic conditions began around the time of the Wilson and Jungner publication. There was newborn screening for inborn errors of metabolism such as phenylketonuria, later followed by prenatal screening for Down syndrome and neural tube defects using ultrasound and biochemical mark-ers. Once individual disease genes started to be identified using novel molecular techniques, pilot screening programmes were established for several rare genetic conditions such as Tay Sachs disease and cystic fibrosis. With the advances in genetic technology, the rate at which new disease genes are being identified is out-pacing the ability of professionals and

/pdf/revisiting-wilson-and-jungner-in-the-genomic-age-a-review-of-5cde3w3kzz.pdf

Revisiting Wilson and Jungner in the genomic age: a review of screening criteria over the past 40 years

RATIONALE, AIMS AND OBJECTIVES
Clinical Practice Guidelines (CPGs) have been shown to improve healthcare services and clinical outcomes. However, they are useful resources only to the degree that they are developed according to the most rigorous standards. Multiple studies have demonstrated significant variability between CPGs with regard to specific indicators of quality. The Ordre des psychologues du Québec (OPQ), the College of psychologists of Quebec, has published several CPGs that are intended to provide empirically supported guidance for psychologists in the areas of assessment, diagnosis, general functioning, treatment and other decision-making support. The aim of this study was to evaluate the quality of these CPGs.


METHODS
The Appraisal of Guidelines for Research and Evaluation II (AGREE II) instrument was used to assess the quality of the CPGs.


RESULTS
Our results show that although there have been some modest improvements in quality of the CPGs over time, there are important methodological inadequacies in all CPGs evaluated.


CONCLUSIONS
The findings of this study demonstrate the need for more methodological rigour in CPGs development as such, recommendations to improve CPG quality are discussed.

Sylvie Beauchamp

Papers

Revisiting Wilson and Jungner in the genomic age: a review of screening criteria over the past 40 years

The quality of four psychology practice guidelines using the Appraisal of Guidelines for Research and Evaluation (AGREE) II.