Experiences of perinatal genetic screening for people from migrant and refugee backgrounds: a scoping review.

People from refugee and migrant backgrounds often face poor experiences and outcomes in healthcare, and genetic healthcare is no exception. Understanding whether and how these health inequities manifest is an important step towards equitable perinatal genetic screening for genetic or chromosomal conditions (offered preconception, prenatally, or during the newborn period). A scoping review was conducted to review international evidence of perceptions and experiences of perinatal genetic screening for people from migrant and refugee backgrounds.

Embedding Specialised Educators in Modalities for Continuing Medical Education. A Study of Effectiveness, and Health Care Practitioner and Educator Preferences.

Introduction: As the delivery of continuing medical education moves towards digital modes, determining how to embed and capitalise on the skills of specialised educators in digital modalities is critical. Drawing on social theories of adult learning and behaviour change, this study trialled multiple delivery modes of education about reproductive genetic 'carrier screening' with varying levels of specialised educator (genetic counsellors) input to examine clinical effectiveness, and health care practitioners and educator preferences.

Methods: A subset of health care practitioners (n = 209) interested in offering carrier screening through a large study were randomly allocated to receive education via face-to-face, a pre-recorded video or an online module, with active or passive educator input.

Offering reproductive genetic carrier screening for cystic fibrosis, spinal muscular atrophy and fragile X syndrome: Views of Victorian general practitioners.

Background And Objectives: The Royal Australian College of General Practice recommends that all women contemplating pregnancy or in early pregnancy should be offered reproductive genetic carrier screening (RGCS). In November 2023, a new Medicare item number was introduced for RGCS to detect cystic fibrosis (CF), spinal muscular atrophy (SMA) and fragile X syndrome (FXS) carrier status. The role of general practice in offering RGCS is recognised as being of crucial importance, but only a minority of general practitioners (GPs) are offering such screening.

Perceptions of severity and their influence on reproductive decision-making following reproductive genetic carrier screening.

The concept of severity in healthcare is multidimensional and subjective. It is a primary consideration in reproductive genetic carrier screening design where the focus is providing reproductive couples with information about the chance of severe genetic conditions in their offspring. When offering this screening, it is important to understand how condition severity is perceived and incorporated into reproductive decision-making.

Considering severity in the design of reproductive genetic carrier screening programs: screening for severe conditions.

Reproductive genetic carrier screening (RGCS) provides information about people's chance of having children with certain genetic conditions, to inform reproductive decision making. RGCS at population scale requires a robust and streamlined program that is purposively designed and formally implemented to ensure equity and consistency. There are many considerations in selecting conditions, genes and variants for inclusion in RGCS, with severity of the genetic condition a key criterion.

Nationwide, Couple-Based Genetic Carrier Screening.

Background: Genomic sequencing technology allows for identification of reproductive couples with an increased chance, as compared with that in the general population, of having a child with an autosomal recessive or X-linked genetic condition.

Methods: We investigated the feasibility, acceptability, and outcomes of a nationwide, couple-based genetic carrier screening program in Australia as part of the Mackenzie's Mission project. Health care providers offered screening to persons before pregnancy or early in pregnancy.

'I Could Trust It': Experiences of Reciprocal Translocation Carriers and Their Partners With Prenatal Cell-Free DNA Screening for Unbalanced Translocations.

Objective: To explore the experiences of people having cfDNA screening to detect unbalanced translocations, and to understand motivations for choosing this option.

Methods: We used a qualitative approach with in-depth semi-structured interviews with reciprocal translocation carriers and their partners. People who underwent cfDNA screening with translocation analysis through Victorian Clinical Genetics Services between 2015 and 2019 were invited to take part.

Investigative power of genomic informational field theory relative to genome-wide association studies for genotype-phenotype mapping.

Identifying associations between phenotype and genotype is the fundamental basis of genetic analyses. Inspired by frequentist probability and the work of R. A.

Implementing Policy and Practice Changes to Support Breastfeeding Duration in New York State Communities.

The health benefits of breastfeeding are well-documented, but rates of breastfeeding duration in the US fall below national targets - especially when mothers have less education, have lower incomes, are non-Hispanic Black, or live in nonmetropolitan areas. The Creating Breastfeeding Friendly Communities program was designed to promote breastfeeding and reduce disparities by implementing policy and practice changes in worksites from 2017 through 2023. The purpose of this evaluation was to determine whether the program was effective in increasing breastfeeding supports and addressing disparities.

Key informant perspectives on implementing genomic newborn screening: a qualitative study guided by the Action, Actor, Context, Target, Time framework.

Newborn screening (NBS) programmes are highly successful, trusted, public health interventions. Genomic sequencing offers the opportunity to increase the benefits of NBS by screening infants for a greater number and variety of childhood-onset conditions. This study aimed to describe who needs to do what, when, and for whom to deliver genomic newborn screening (gNBS) and capture perceived implementation barriers and enablers.

Evaluation of the First Three Years of Treatment of Children with Congenital Hypothyroidism Identified through the Alberta Newborn Screening Program.

The effectiveness of newborn screening (NBS) for congenital hypothyroidism (CH) relies on timely screening, confirmation of diagnosis, and initiation and ongoing monitoring of treatment. The objective of this study was to ascertain the extent to which infants with CH have received timely and appropriate management within the first 3 years of life, following diagnosis through NBS in Alberta, Canada. Deidentified laboratory data were extracted between 1 April 2014 and 31 March 2019 from Alberta Health administrative databases for infants born in this time frame.

Investigative power of Genomic Informational Field Theory (GIFT) relative to GWAS for genotype-phenotype mapping.

Identifying associations between phenotype and genotype is the fundamental basis of genetic analyses. Inspired by frequentist probability and the work of R.A.

Evaluation of a vibration modeling technique for the in-vitro measurement of dental implant stability.

The Advanced System for Implant Stability Testing (ASIST) is a device currently being developed to noninvasively measure implant stability by estimating the mechanical stiffness of the bone-implant interface, which is reported as the ASIST Stability Coefficient (ASC). This study's purpose was to determine whether changes in density, bonding, and drilling technique affect the measured vibration of a dental implant, and whether they can be quantified as a change in the estimated BII stiffness. Stability was also measured using RFA, insertion torque (IT) and the pullout test.

Prospective cohort study of genomic newborn screening: BabyScreen+ pilot study protocol.

Introduction: Newborn bloodspot screening (NBS) is a highly successful public health programme that uses biochemical and other assays to screen for severe but treatable childhood-onset conditions. Introducing genomic sequencing into NBS programmes increases the range of detectable conditions but raises practical and ethical issues. Evidence from prospectively ascertained cohorts is required to guide policy and future implementation.

Perspectives on Communication Technology Use for Alleviating the Impact of COVID-19 on Hospitalized Patients' Well-Being and Transitions in Care.

Background: The COVID-19 pandemic created many challenges for in-patient care including patient isolation and limitations on hospital visitation. Although communication technology, such as video calling or texting, can reduce social isolation, there are challenges for implementation, particularly for older adults.

Objective/methods: This study used a mixed methodology to understand the challenges faced by in-patients and to explore the perspectives of patients, family members, and health care providers (HCPs) regarding the use of communication technology.

Gene selection for genomic newborn screening: Moving toward consensus?

Purpose: Gene selection for genomic newborn screening (gNBS) underpins the validity, acceptability, and ethical application of this technology. Existing gNBS gene lists are highly variable despite being based on shared principles of gene-disease validity, treatability, and age of onset. This study aimed to curate a gNBS gene list that builds upon existing efforts and provide a core consensus list of gene-disease pairs assessed by multiple expert groups worldwide.

Australian Public Perspectives on Genomic Newborn Screening: Risks, Benefits, and Preferences for Implementation.

Recent dramatic reductions in the timeframe in which genomic sequencing can deliver results means its application in time-sensitive screening programs such as newborn screening (NBS) is becoming a reality. As genomic NBS (gNBS) programs are developed around the world, there is an increasing need to address the ethical and social issues that such initiatives raise. This study therefore aimed to explore the Australian public's perspectives and values regarding key gNBS characteristics and preferences for service delivery.

An analytical model to measure dental implant stability with the Advanced System for Implant Stability Testing (ASIST).

A non-invasive method of quantitatively assessing dental implant stability is important to monitor its long-term health. The Advanced System for Implant Stability Testing (ASIST) is a noninvasive technique that couples the impact technique with a linear vibration model of the implant system, such that the measured signal can be used to determine a matching analytical response. The purpose of this study was to evaluate the ASIST technique by comparing stability estimates obtained from artificial implant installations with various abutments.

Insight and Recommendations for Fragile X-Premutation-Associated Conditions from the Fifth International Conference on Premutation.

The premutation of the fragile X messenger ribonucleoprotein 1 () gene is characterized by an expansion of the CGG trinucleotide repeats (55 to 200 CGGs) in the 5' untranslated region and increased levels of mRNA. Molecular mechanisms leading to fragile X-premutation-associated conditions (FXPAC) include cotranscriptional R-loop formations, mRNA toxicity through both RNA gelation into nuclear foci and sequestration of various CGG-repeat-binding proteins, and the repeat-associated non-AUG (RAN)-initiated translation of potentially toxic proteins. Such molecular mechanisms contribute to subsequent consequences, including mitochondrial dysfunction and neuronal death.

Social and physical predictors of mental health impact in adult women who have an premutation.

Purpose: Clear understanding of mental health phenotypes and associated socioeconomic, physical health and well-being impacts in adult women with an premutation (PM) is needed for counseling and primary healthcare.

Methods: A questionnaire captured mental health conditions in women with a PM, using lifetime diagnosis and nested psychometric scales (Liebowitz Social Anxiety Scale; Depression and Anxiety Stress Scale). Socioeconomic, physical health and well-being data were entered into 2 multivariable logistic regression models (1 with depression status as the outcome variable and 1 with social anxiety as the outcome).

Airborne observations over the North Atlantic Ocean reveal the importance of gas-phase urea in the atmosphere.

Reduced nitrogen (N) is central to global biogeochemistry, yet there are large uncertainties surrounding its sources and rate of cycling. Here, we present observations of gas-phase urea (CO(NH)) in the atmosphere from airborne high-resolution mass spectrometer measurements over the North Atlantic Ocean. We show that urea is ubiquitous in the lower troposphere in the summer, autumn, and winter but was not detected in the spring.