Genetic Screening Programs and Public Policy

1977 ◽  
Vol 38 (2) ◽  
pp. 117 ◽  
Author(s):  
James E. Bowman
Keyword(s):  
Public Policy ◽  
Genetic Screening ◽  
Screening Programs

Avoiding the technological imperative: Criteria for genetic screening programs

2017 ◽  
Vol 1 (3) ◽  
pp. 1-1 ◽  
Author(s):  
Anne-Marie Laberge ◽  
◽  
Wylie Burke ◽  
◽  
Keyword(s):  
Genetic Screening ◽  
Screening Programs ◽  
Technological Imperative

scholarly journals Positive predictive value highlights four novel candidates for actionable genetic screening from analysis of 220,000 clinicogenomic records

2021 ◽  
Author(s):  
Kelly M. Schiabor Barrett ◽  
Alexandre Bolze ◽  
Yunyun Ni ◽  
Simon White ◽  
Magnus Isaksson ◽  
...  
Keyword(s):  
Positive Predictive Value ◽  
Genetic Screening ◽  
Predictive Value ◽  
Rare Variants ◽  
Large Population ◽  
Population Screening ◽  
Cystic Kidney Disease ◽  
Cystic Kidney ◽  
Screening Programs ◽  
Thalassemia Minor

Abstract Purpose To identify conditions that are candidates for population genetic screening based on population prevalence, penetrance of rare variants, and actionability. Methods We analyzed exome and medical record data from >220,000 participants across two large population health cohorts with different demographics. We performed a gene-based collapsing analysis of rare variants to identify genes significantly associated with disease status. Results We identify 74 statistically significant gene–disease associations across 27 genes. Seven of these conditions have a positive predictive value (PPV) of at least 30% in both cohorts. Three are already used in population screening programs (BRCA1, BRCA2, LDLR), and we also identify four new candidates for population screening: GCK with diabetes mellitus, HBB with β-thalassemia minor and intermedia, PKD1 with cystic kidney disease, and MIP with cataracts. Importantly, the associations are actionable in that early genetic screening of each of these conditions is expected to improve outcomes. Conclusion We identify seven genetic conditions where rare variation appears appropriate to assess in population screening, four of which are not yet used in screening programs. The addition of GCK, HBB, PKD1, and MIP rare variants into genetic screening programs would reach an additional 0.21% of participants with actionable disease risk, depending on the population.

Concerns About Screening Programs

PEDIATRICS ◽  
1977 ◽  
Vol 60 (4) ◽  
pp. 549-549
Author(s):  
MURRAY D. KUHR
Keyword(s):  
Genetic Screening ◽  
Psychosocial Impact ◽  
The Self ◽  
Age Group ◽  
Screening Programs ◽  
Self Image ◽  
Group 1

To the Editor: Clow and Scriver have advanced our knowledge of the psychosocial impact of genetic screening (Pediatrics 59:86, January 1977). More than half of the carriers were worried or depressed. Four of the 45 carriers had diminished self-image. Why the self-stigmatization? Stone, in describing the case of a psychotic adolescent who was a Tay-Sachs carrier cautions against screening in this age group.1 The evidence builds that genetic screening can be harmful to one's psychic

Improving population health or the population itself? Health technology assessment and our genetic future

2004 ◽  
Vol 20 (2) ◽  
pp. 106-114 ◽  
Author(s):  
Ken Bassett ◽  
Patricia M. Lee ◽  
Carolyn J. Green ◽  
Lisa Mitchell ◽  
Arminée Kazanjian
Keyword(s):  
Health Technology Assessment ◽  
Technology Assessment ◽  
Genetic Screening ◽  
Policy Development ◽  
Screening Program ◽  
Prenatal Testing ◽  
Health Technology ◽  
Health Care Environment ◽  
Trimester Abortion ◽  
Screening Programs

The province of British Columbia (BC), Canada is developing its first population-wide prenatal genetic screening program, known as triple-marker screening (TMS). TMS, initiated with a simple blood test, is most commonly used to screen for fetuses with the chromosomal abnormality known as Down syndrome or neural tube disorders. Women testing TMS-positive are offered diagnostic amniocentesis and, if the diagnosis is confirmed, selective second-trimester abortion. The project described in this study was initiated to address the broad range of issues arising from this testing technology and provides an example of the new type of health technology assessment (HTA) contribution emerging (and likely to become increasing necessary) in health policy development. With the advent of prenatal genetic screening programs, would-be parents gain the promise of identifying target conditions and, hence, the option of selective abortion of affected fetuses. There is considerable awareness that these developments pose challenges in every dimension (ethical, political, economic, and clinical) of the health-care environment. In the effort to construct an appropriate prenatal screening policy, therefore, administrators have understandably sought guidance from within the field of HTA. The report authors concluded that, within the restricted path open to it, the role of government is relatively clear. It has the responsibility to maintain equal access to prenatal testing, as to any other health service. It should also require maintenance of medical standards and evaluation of program performance. At the same time, policy-makers need actively to support those individuals born with disabilities and their families.

Tumor Genetic Screening Programs: A Call to Action

2015 ◽  
Vol 33 (25) ◽  
pp. 2725-2726 ◽  
Author(s):  
David M. Hyman ◽  
David B. Solit
Keyword(s):  
Genetic Screening ◽  
Call To Action ◽  
Screening Programs

scholarly journals Neonatal Screening for Monogenic Inborn Pathology in Ukraine

2020 ◽  
Vol 5 (6) ◽  
pp. 292-298
Author(s):  
E. M. Omelchenko ◽  
O. O. Polka ◽  
L. A. Karamzina
Keyword(s):  
Risk Factors ◽  
Cystic Fibrosis ◽  
Birth Defects ◽  
Genetic Screening ◽  
Congenital Malformations ◽  
New Technologies ◽  
Genetic Load ◽  
Hereditary Diseases ◽  
Congenital Defects ◽  
Screening Programs

The International Clearinghouse for Surveillance and Research on Congenital Defects is collecting data from surveillance of birth defects and research programs around the world to investigate, prevent and mitigate birth defects. In Ukraine, data collection on the prevalence of congenital malformations is carried out by the national profile regulator – the Ministry of Health. There is a spectrum of risk factors that increase the prevalence of genetic birth defects leading to neonatal and infant mortality, mental retardation and lifelong disability. Screening programs, including neonatal genetic screening, help to avoid such risks. Such testing with a stable detection result is carried out only for 3 diseases: phenylketonuria, hypothyroidism, cystic fibrosis today in Ukraine. The purpose of the study was to evaluate the results of screening for monogenic pathology among newborns in Ukraine. Material and methods. The results of screening for hereditary pathology of newborns in Ukraine were evaluated over a 10-year period: from 2010 to 2019. The information base was the data of official medical statistics. Out of 4,308,100 live births, 9,199,817 newborns were covered by neonatal genetic screening. The presence of genetic pathology was identified and confirmed at 1313 children. Results and discussion. According to a group of researchers from the Wadsworth Center (New York, USA), the development of the science of newborn screening, especially with new technologies, providing new types of information (genetic and physiological) for each new condition, is possible only with pilot programs. During 2010-2019 in Ukraine neonatal genetic screening covered phenylketonuria in 89.56% of newborns, hypothyroidism in 84.43% of newborns, and cystic fibrosis in 39.55% of newborns. It is necessary to create a state program of mass examination for hereditary diseases that can be treated. The main purpose of such a program is to predict the dynamics of genetic load among the population to develop the necessary medical and social measures. A decrease in the number of births of children with congenital malformations is possible in the context of government programs aimed at reducing risk factors causing congenital anomalies, as well as taking preventive measures. The main goal of such a program is to predict the dynamics of the genetic load among the population in order to develop the necessary medical and social measures. Conclusion. In Ukraine today there are no targeted programs for comprehensive prevention of congenital pathology. Improvement of the situation is possible through the involvement of high technologies, allowing to expand the panel of genetic screening to start early treatment and reduce negative results. Genetic screening has been shown to be an effective tool for detecting congenital metabolic disorders

scholarly journals Nationwide population genetic screening improves outcomes of newborn screening for hearing loss in China

2018 ◽  
Author(s):  
Qiuju Wang ◽  
Jiale Xiang ◽  
Jun Sun ◽  
Yun Yang ◽  
Jing Guan ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Genetic Screening ◽  
Outcome Data ◽  
Convincing Evidence ◽  
Hearing Screening ◽  
Loss To Follow Up ◽  
Screening Programs ◽  
Universal Newborn Hearing Screening ◽  
Newborn Hearing

Purpose: Concurrent newborn hearing and genetic screening has been reported, but its benefits have not been statistically proven due to limited sample sizes and outcome data. To fill this gap, we analyzed outcomes of a large number of newborns with genetic screening results. Methods: Newborns in China were screened for 20 hearing-loss-related genetic variants from 2012-2017. Genetic results were categorized as positive, at-risk, inconclusive, or negative. Hearing screening results, risk factors, and up-to-date hearing status were followed-up via phone interviews. Results: We completed genetic screening on one million newborns and followed up 12,778. We found that a positive genetic result significantly indicated a higher positive predictive value of the initial hearing screening (60% vs. 5.0%, P<0.001) and a lower rate of loss-to-follow-up (5% vs. 22%, P<0.001) than an inconclusive one. Importantly, 42% of subjects in the positive group with reported or presymptomatic hearing loss were missed by conventional hearing screening. Furthermore, genetic screening identified 0.23% of subjects predisposed to preventable ototoxicity. Conclusion: Our results demonstrate that limited genetic screening identified additional cases, reduced loss-to-follow-up, and informed families of ototoxicity risks, providing convincing evidence to support integrating genetic screening into universal newborn hearing screening programs.

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