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AbstractState‐level newborn screening allows for early treatment of genetic disorders, which can substantially improve health outcomes for newborns. As the cost of genetic testing decreases, it is becoming an essential part of newborn screening. A genetic disorder can be caused by many mutation variants; therefore, an important decision is to determine which variants to search for (ie, thepaneldesign), under a testing budget. The frequency of variants that cause a disorder and the incidence of the disorder vary by racial/ethnic group. Consequently, it is important to consider equity issues in panel design, so as to reduce disparities among different groups. We study the panel design problem using cystic fibrosis (CF) as a model disorder, considering the trade‐offs between equity and accuracy, under a limited budget. Most states use a genetic test in their CF screening protocol, but panel designs vary, and, due to cost, no state's panel includes all CF‐causing variants. We develop models that design equitable genetic testing panels, and compare them with panels that maximize sensitivity in the general population. Our case study, based on realistic CF data, highlights the value of equitable panels and provides important insight for newborn screening practices.

With the advent of new genetic technologies and the Human Genome Initiative, interest in the problems posed by genetic diagnostics in general, and by genetic screening in particular, has surfaced. Many recent works focus on the problems posed by the "new genetics" in the contexts of prenatal diagnosis, carrier detection, employment, and insurance. In the midst of all this discussion, the routine testing of newborns for genetic disorders seems relatively uncomplicated and has, in fact, become "a part of common practice and accepted public policy with little thought having been given to the implications." The relative lack of concern about newborn screening is understandable. The fact that a routine test can detect diseases that could have serious consequences if untreated but which could be alleviated by early intervention makes the use of routine testing on newborns seem inevitable. A growing number of commentators applaud this practical exclusion of parents from the decision-making process and assert that newborn screening is so desirable that states should require it as a matter of law. This Article argues that society should resist efforts to require that newborns be tested for an ever-increasing number of conditions. Part II of this Article examines why interdisciplinary research is essential in developing appropriate laws governing newborn screening. Part III presents an overview of the screening process by describing not only what screening can and cannot do, but also the general organization of current programs. Part IV draws upon several different areas of discourse that suggest reason for concern. First, a large body of empirical research is presented that demonstrates that newborn screening causes psychological and other harm to infants and their families. These consequences have not previously been considered by legal commentators. Second, this section suggests that the diagnosis of disease in the neonatal period, regardless of accuracy, can have adverse social and legal consequences for families and ...

Newborn screening (NBS) in Alberta is delivered by a number of government and health service entities who work together to provide newborn screening to infants born in Alberta, the Northwest Territories, and the Kitikmeot region of the Nunavut territory. The Alberta panel screens for 21 disorders (16 metabolic, two endocrine, cystic fibrosis, severe combined immunodeficiency, and sickle cell disease). NBS is a standard of care, but is not mandatory. NBS performance is monitored by the Alberta Newborn Metabolic Screening (NMS) Program and NMS Laboratory, who strive for continuous quality improvement. Performance analysis found that over 99% of registered infants in Alberta received a newborn screen and over 98% of these infants received a screen result within 10 days of age.

Newborn screening is a successful program in many developed countries. In India, the benefits of dried blood spot screening have been recognized and that screening is slowly gaining traction. There are significant issues standing in the way of universal implementation of a newborn screening program in India: awareness, cost, advocacy, public policy, and politics. Three regional screening programs, Chandigarh, Goa, and Kerala could serve as models for other programs in India. The data for this commentary were based on personal experiences from managing public newborn screening programs, searches on PubMed and Google, and personal interactions with experts in the field. The overwhelming recommendation is to universally screen for congenital hypothyroidism in India, because it is easy and inexpensive to treat, with excellent outcomes. It would also be beneficial to consider screening universally for glucose-6-phosphate dehydrogenase deficiency due to its high incidence and ease of treatment. Finally, sickle cell disease should be screened in those areas in India where it is prevalent due to the costs associated with universal screening. Achieving universal screening is a challenge, and it is very difficult to predict when every baby born in India will be screened for at least congenital hypothyroidism.

A letter report issued by the General Accounting Office with an abstract that begins "Each year state newborn screening programs test 4 million newborns for disorders that require early detection and treatment to prevent serious illness or death. GAO was asked to provide the Congress with information on the variations among state newborn screening programs, including information on criteria considered in selecting disorders to include in state programs, education for parents and providers about newborn screening programs, and programs' expenditures and funding sources. To collect this information, GAO surveyed newborn screening programs for genetic and metabolic disorders in all 50 states and the District of Columbia. GAO was also asked to provide information on efforts by the Department of Health and Human Services (HHS) and states to evaluate the quality of newborn screening programs, state laws and regulations that address parental consent for newborn screening, and state laws and regulations that address confidentiality issues."

Approval was recently granted for a new treatment for spinal muscular atrophy (SMA). Given that the treatment is effective when administered early and the societal burden of SMA-related disability, the implementation of a newborn screening program is warranted. We describe the stepwise process that led us to launch a newborn screening program for SMA in Southern Belgium. Different political, ethical, and clinical partners were informed about this project and were involved in its governance, as were genetic and screening labs. We developed and validated a newborn screening method to specifically recognize homozygous deletions of exon 7 in the SMN1 gene. Subsequently, a 3-year pilot study has been recently initiated in one Belgian neonatal screening laboratory to cover 17.000 neonates per year. Coverage extension to all of Southern Belgium to screen 55.000 babies each year is underway. (C) 2019 Elsevier B.V. All rights reserved.

Cover -- Newborn Screening for Genetic Disorders: Experiments on Plant Hybridization -- Contents -- Acknowledgments -- Introduction -- Chapter 1: Symptoms and Diagnosis -- Chapter 2: Causes and Contributing Factors -- Chapter 3: Treatment and Therapy -- Chapter 4: Future Prospects -- Conclusion -- Glossary -- Bibliography -- About the author -- Index -- Ad Page -- Back Cover.

Newborn screening is a successful program in many developed countries. In India, the benefits of dried blood spot screening have been recognized and that screening is slowly gaining traction. There are significant issues standing in the way of universal implementation of a newborn screening program in India: awareness, cost, advocacy, public policy, and politics. Three regional screening programs, Chandigarh, Goa, and Kerala could serve as models for other programs in India. The data for this commentary were based on personal experiences from managing public newborn screening programs, searches on PubMed and Google, and personal interactions with experts in the field. The overwhelming recommendation is to universally screen for congenital hypothyroidism in India, because it is easy and inexpensive to treat, with excellent outcomes. It would also be beneficial to consider screening universally for glucose-6-phosphate dehydrogenase deficiency due to its high incidence and ease of treatment. Finally, sickle cell disease should be screened in those areas in India where it is prevalent due to the costs associated with universal screening. Achieving universal screening is a challenge, and it is very difficult to predict when every baby born in India will be screened for at least congenital hypothyroidism.

The changing moral focus of newborn screening: an ethical analysis by the president's council on bioethics / President's Council on Bioethics -- Genetic exceptionalism: genetic information and public policy / Amanda K. Sarata -- Genetic testing: scientific background for policymakers / Amanda K. Sarata

Early diagnosis of males with X-linked adrenoleukodystrophy (X-ALD) is essential for preventing loss of life due to adrenal insufficiency and for timely therapy of the childhood cerebral form of X-ALD with hematopoietic cell transplantation. This article describes X-ALD, the current therapies, the history of the development of the newborn screening test, the approval by the Secretary of Health and Human Services for the addition of X-ALD newborn screening to the recommended uniform panel of disorders screened as newborns (RUSP) and the successful implementation of X-ALD newborn screening in the state of New York beginning on 30 December 2013. Follow-up guidelines that have been established in New York are outlined. Based on the success of newborn screening in New York, and early results in Connecticut, where X-ALD newborn screening started in December 2015, and in California, where X-ALD newborn screening began in September 2016, we are confident and hopeful that X-ALD newborn screening will expand to include all US states and to countries that have established neonatal screening programs. The Minster of Health in the Netherlands has approved the addition of X-ALD to the newborn screening program with a start date expected in 2017. The states, such as Massachusetts, Illinois, Minnesota, New Jersey, Florida and Washington, that have legislative approval will commence screening as soon as budgetary resources, testing and follow-up procedures are in place.

Newborn screening (NBS) in Alberta is delivered by a number of government and health service entities who work together to provide newborn screening to infants born in Alberta, the Northwest Territories, and the Kitikmeot region of the Nunavut territory. The Alberta panel screens for 21 disorders (16 metabolic, two endocrine, cystic fibrosis, severe combined immunodeficiency, and sickle cell disease). NBS is a standard of care, but is not mandatory. NBS performance is monitored by the Alberta Newborn Metabolic Screening (NMS) Program and NMS Laboratory, who strive for continuous quality improvement. Performance analysis found that over 99% of registered infants in Alberta received a newborn screen and over 98% of these infants received a screen result within 10 days of age.