One Size Does Not Fit All: A Multifaceted Approach to Educate Families about Newborn Screening.

All families deserve access to readily available, accurate, and relevant information to help them navigate the newborn screening system. Current practices, limited resources, and a siloed newborn screening system create numerous challenges for both providers and families to implement educational opportunities to engage families in ways that meet their needs with relevant and meaningful approaches. Engaging families in newborn screening, especially those from historically underserved communities, is necessary to increase knowledge and confidence which leads to overall improved outcomes for families.

The Value of Cognitive Pretesting: Improving Validity and Revealing Blind Spots through the Development of a Newborn Screening Parent Experiences Survey.

Surveys are used to gather a range of data on newborn screening (NBS) processes. We describe the development of a survey about parents' NBS experiences, in the United States, informed by cognitive pretest interviews among parents with varying NBS test results (true-positive, false-positive, normal). Cognitive pretest interviews were conducted following a semi-structured script and notes were taken to identify problematic survey items.

Digital peer-to-peer information seeking and sharing: Opportunities for education and collaboration in newborn screening.

Parents use the internet to connect with their peers and access information about a multitude of health topics, including newborn screening (NBS). As the NBS system evolves, education about NBS must be evaluated and updated to remain accessible and beneficial to parents. In this article, we aim to describe parents' current NBS educational needs and highlight areas to improve newborn screening education by detailing an analysis of NBS posts on an online parenting discussion platform.

Assessing the newborn screening education needs of families living in medically underserved areas.

Newborn screening (NBS) is a public health service available to all babies born in the United States (US). NBS is one of the first experiences families have in the US healthcare system with a new baby. A positive experience with NBS can give families a strong start to their child's health care and build trusting relationships with providers.

A Newborn Screening Education Best Practices Framework: Development and Adoption.

Newborn screening is a process-based public health service. Newborn screening staff and families alike are essential to maintaining the timeliness of the screening process. Newborn screening education must be accurate and accessible.

A New Era, New Strategies: Education and Communication Strategies to Manage Greater Access to Genomic Information.

As next-generation genomic sequencing, including whole-genome sequencing information, becomes more common in research, clinical, and public health contexts, there is a need for comprehensive communication strategies and education approaches to prepare patients and clinicians to manage this information and make informed decisions about its use, and nowhere is that imperative more pronounced than when genomic sequencing is applied to newborns. Unfortunately, in-person counseling is unlikely to be applicable or cost-effective when parents obtain genomic risk information directly via the Internet. As a rule, communication strategies should match how people are accessing health information.

Including ELSI research questions in newborn screening pilot studies.

Background: The evidence review processes for adding new conditions to state newborn screening (NBS) panels rely on data from pilot studies aimed at assessing the potential benefits and harms of screening. However, the consideration of ethical, legal, and social implications (ELSI) of screening within this research has been limited. This paper outlines important ELSI issues related to newborn screening policy and practices as a resource to help researchers integrate ELSI into NBS pilot studies.

'Your DNA, Your Say': global survey gathering attitudes toward genomics: design, delivery and methods.

Our international study, 'Your DNA, Your Say', uses film and an online cross-sectional survey to gather public attitudes toward the donation, access and sharing of DNA information. We describe the methodological approach used to create an engaging and bespoke survey, suitable for translation into many different languages. We address some of the particular challenges in designing a survey on the subject of genomics.

APPLaUD: access for patients and participants to individual level uninterpreted genomic data.

Background: There is a growing support for the stance that patients and research participants should have better and easier access to their raw (uninterpreted) genomic sequence data in both clinical and research contexts.

Main Body: We review legal frameworks and literature on the benefits, risks, and practical barriers of providing individuals access to their data. We also survey genomic sequencing initiatives that provide or plan to provide individual access.

Offering Prenatal Screening in the Age of Genomic Medicine: A Practical Guide.

Aims: In September, 2015, Mayo Clinic convened a panel of national thought leaders on prenatal screening, medical genetics, and obstetrics and gynecology practice.

Results: During the 2-day symposium, participants discussed the implications of the shift toward broader prenatal screening using cell-free placental DNA in maternal serum (cfDNA screening). Key topics included challenges around the pace of change in the prenatal screening market, uncertainty around reimbursement, meeting the need for patient counseling, and potential challenges in interpreting and returning cfDNA screening results.

A maternal Western diet during gestation and lactation modifies offspring's microbiota activity, blood lipid levels, cognitive responses, and hippocampal neurogenesis in Yucatan pigs.

A suboptimal early nutritional environment ( excess of energy, sugar, and fat intake) can increase susceptibility to diseases and neurocognitive disorders. The purpose of this study was to investigate in nonobese Yucatan minipigs () the impact of maternal diet [standard diet (SD) Western diet (WD)] during gestation and 25 d of lactation on milk composition, blood metabolism, and microbiota activity of sows ( 17) and their piglets ( 65), and on spatial cognition ( 51), hippocampal plasticity ( 17), and food preferences/motivation ( 51) in the progeny. Milk dry matter and lipid content, as well as plasma total cholesterol and free fatty acid (FFA) concentrations ( < 0.

Influence of production system in local and conventional pig breeds on stress indicators at slaughter, muscle and meat traits and pork eating quality.

Sensory quality of pork is a complex phenotype determined by interactions between genetic and environmental factors. This study aimed at describing the respective influences of breed and production system on the development of pork quality. Plasma stress indicators and Longissimus muscle (LM) composition, physicochemical and sensory quality traits were determined in two contrasted breeds - the conventional Large White (LW, n=40) and the French local Basque (B, n=60).

Parental permission for pilot newborn screening research: guidelines from the NBSTRN.

There is broad recognition of the need for population-based research to assess the safety and efficacy of newborn screening (NBS) for conditions that are not on current panels. However, prospective population-based research poses significant ethical, regulatory, and logistical challenges. In the context of NBS, there have been a variety of approaches that address parental decision-making in pilot studies of new screening tests or conditions.

Associations between muscle gene expression pattern and technological and sensory meat traits highlight new biomarkers for pork quality assessment.

Meat quality (MQ) results from complex phenomenon and despite improved knowledge on MQ development, its variability remains high. The identification of biomarkers and the further development of rapid tests would thus be helpful to evaluate MQ in pork industries. Using transcriptomics, the present study aimed at identifying biomarkers of eight pork quality traits: ultimate pH, drip loss, lightness, redness, hue angle, intramuscular fat, shear force and tenderness, based on an experimental design inducing a high variability in MQ.

Implications of newborn screening for nurses.

Purpose: Newborn screening has dramatically decreased the morbidity and mortality associated with a wide range of heritable conditions. Continuing advances in screening technology and improvements in the effectiveness of treatment are driving the rapid expansion of newborn screening programs. In this article, we review issues in newborn screening care and opportunities for nurses and nursing faculty to provide education and conduct research to improve the impact of newborn screening.

Metabolic adaptation of two pig muscles to cold rearing conditions.

Cold environment represents an external stress modulating animal growth and energy use. At muscle level, adaptation to cold conditions potentially involves energy homeostasis regulation gauged by the adenosine monophosphate (AMP)-activated protein kinase (AMPK). Our study aimed at evaluating the bare effects of short- and long-term cold exposure on growth performance, carcass traits, and metabolic characteristics of the oxidative semispinalis (SS) muscle and glycolytic LM and to evaluate the reversibility of short-term effects, with a special emphasis on AMPK activity.