Current status of newborn screening worldwide: 2015

BL Therrell, CD Padilla, JG Loeber, I Kneisser… - Seminars in …, 2015 - Elsevier
Newborn screening describes various tests that can occur during the first few hours or days
of a newborn's life and have the potential for preventing severe health problems, including …

[HTML][HTML] Points to consider: ethical, legal, and psychosocial implications of genetic testing in children and adolescents

JR Botkin, JW Belmont, JS Berg, BE Berkman… - The American Journal of …, 2015 - cell.com
In 1995, the American Society of Human Genetics (ASHG) and American College of Medical
Genetics and Genomics (ACMG) jointly published a statement on genetic testing in children …

Inborn errors of metabolism and expanded newborn screening: review and update

CM Mak, HCH Lee, AYW Chan… - Critical reviews in clinical …, 2013 - Taylor & Francis
Inborn errors of metabolism (IEM) are a phenotypically and genetically heterogeneous
group of disorders caused by a defect in a metabolic pathway, leading to malfunctioning …

A systematic literature review of individuals' perspectives on privacy and genetic information in the United States

EW Clayton, CM Halverson, NA Sathe, BA Malin - PloS one, 2018 - journals.plos.org
Concerns about genetic privacy affect individuals' willingness to accept genetic testing in
clinical care and to participate in genomics research. To learn what is already known about …

Lessons from HeLa cells: the ethics and policy of biospecimens

LM Beskow - Annual review of genomics and human genetics, 2016 - annualreviews.org
Human biospecimens have played a crucial role in scientific and medical advances.
Although the ethical and policy issues associated with biospecimen research have long …

Facilitators and barriers to pre-exposure prophylaxis (PrEP) use among black individuals in the United States: results from the National Survey on HIV in the Black …

BO Ojikutu, LM Bogart, M Higgins-Biddle, SK Dale… - AIDS and Behavior, 2018 - Springer
This study explores willingness to use PrEP among Black individuals in the US. From
February to April 2016, an online survey was administered to a nationally representative …

If you build it, they will come: unintended future uses of organised health data collections

KC O'Doherty, E Christofides, J Yen, HB Bentzen… - BMC Medical …, 2016 - Springer
Background Health research increasingly relies on organized collections of health data and
biological samples. There are many types of sample and data collections that are used for …

Actionability of commercial laboratory sequencing panels for newborn screening and the importance of transparency for parental decision-making

DM DeCristo, LV Milko, JM O'Daniel, AKM Foreman… - Genome Medicine, 2021 - Springer
Background Newborn screening aims to identify individual patients who could benefit from
early management, treatment, and/or surveillance practices. As sequencing technologies …

Ethical issues in pediatric genetic testing and screening

JR Botkin - Current Opinion in Pediatrics, 2016 - journals.lww.com
Ethical issues in pediatric genetic testing and screening : Current Opinion in Pediatrics Ethical
issues in pediatric genetic testing and screening : Current Opinion in Pediatrics Log in or …

Early Check: translational science at the intersection of public health and newborn screening

DB Bailey, LM Gehtland, MA Lewis, H Peay, M Raspa… - BMC pediatrics, 2019 - Springer
Background Newborn screening (NBS) occupies a unique space at the intersection of
translational science and public health. As the only truly population-based public health …