Genetic Test Utilization and Cost among Families of Children Evaluated for Genetic Conditions: An Analysis of USA Commercial Claims Data.

Introduction: Healthcare payers in the USA increasingly cover genetic testing, including exome sequencing (ES), for pediatric indications. Analysis of claims data enables understanding of utilization and costs in real-world settings. The objective of this study was to describe genetic test utilization, diagnostic outcomes, and costs for children who received ES as well as for those who received less comprehensive forms of genetic testing, along with their families.

Factors Associated With Repeat Pediatric Influenza Vaccination Among Inconsistent Vaccinators.

Promoting consistent vaccination practices may help improve suboptimal influenza vaccination rates. This study evaluated the prevalence and correlates of repeat influenza (flu) vaccination among children who had previously received the vaccine inconsistently. An online survey study was conducted in 2022 among parents of commercially insured children ages 3 to 19 years who were previously inconsistently vaccinated.

The BabySeq Project: A clinical trial of genome sequencing in a diverse cohort of infants.

Efforts to implement and evaluate genome sequencing (GS) as a screening tool for newborns and infants are expanding worldwide. The first iteration of the BabySeq Project (2015-2019), a randomized controlled trial of newborn sequencing, produced novel evidence on medical, behavioral, and economic outcomes. The second iteration of BabySeq, which began participant recruitment in January 2023, examines GS outcomes in a larger, more diverse cohort of more than 500 infants up to one year of age recruited from pediatric clinics at several sites across the United States.

Primary Care Providers' Experiences With an Active Elective Genetic Testing Program.

Elective genetic testing (EGT) programs that provide pharmacogenomic information to guide medication management and screen for medically actionable disease predispositions are emerging in a number of health systems. Primary care providers (PCPs) are at the forefront of test initiation, patient education, and management of EGT results. However, little research has examined the experiences of PCPs in health systems offering clinical EGT.

Attitudes, knowledge, and risk perceptions of patients who received elective genomic testing as a clinical service.

Purpose: Elective genomic testing (EGT) is increasingly available clinically. Limited real-world evidence exists about attitudes and knowledge of EGT recipients.

Methods: After web-based education, patients who enrolled in an EGT program at a rural nonprofit health care system completed a survey that assessed attitudes, knowledge, and risk perceptions.

Familial communication and cascade testing following elective genomic testing.

Familial communication of results and cascade genetic testing (CGT) can extend the benefits of genetic screening beyond the patient to their at-risk relatives. While an increasing number of health systems are offering genetic screening as an elective clinical service, data are limited about how often results are shared and how often results lead to CGT. From 2018 to 2022, the Sanford Health system offered the Sanford Chip, an elective genomic test that included screening for medically actionable predispositions for disease recommended by the American College of Medical Genetics and Genomics for secondary findings disclosure, to its adult primary care patients.

Clinical impact of preemptive pharmacogenomic testing on antiplatelet therapy in a real-world setting.

CYP2C19 genotyping to guide antiplatelet therapy after patients develop acute coronary syndromes (ACS) or require percutaneous coronary interventions (PCIs) reduces the likelihood of major adverse cardiovascular events (MACE). Evidence about the impact of preemptive testing, where genotyping occurs while patients are healthy, is lacking. In patients initiating antiplatelet therapy for ACS or PCI, we compared medical records data from 67 patients who received CYP2C19 genotyping preemptively (results >7 days before need), against medical records data from 67 propensity score-matched patients who received early genotyping (results within 7 days of need).

Clinically Indicated Genomic Sequencing of Children in Foster Care: Legal and Ethical Issues.

There are approximately 400 000 children in foster care in the US, approximately one-half of whom have chronic health problems and approximately 10% of whom have complex healthcare needs. Given the increasing relevance of genomic sequencing to guide clinical care for children with rare, chronic, and undiagnosed conditions, it may be an important component of diagnostic evaluation for children in foster care. Clinically indicated genomic sequencing may provide information that has health implications for children in foster care, as well as for their biological parents and other relatives.

Attitudes about pharmacogenomic testing vary by healthcare specialty.

To understand how attitudes toward pharmacogenomic (PGx) testing among healthcare providers varies by specialty. Providers reported comfort ordering PGx testing and its perceived utility on web-based surveys before and after genetics education. Primary quantitative analyses compared primary care providers (PCPs) to specialty providers at both timepoints.

Framing the Family: A Qualitative Exploration of Factors That Shape Family-Level Experience of Pediatric Genomic Sequencing.

Families of children with rare and undiagnosed conditions face many psychosocial and logistical challenges that may affect their approach to decisions about their child's care and their family's well-being. As genomic sequencing (GS) is increasingly incorporated into pediatric diagnostic workups, assessing the family-level characteristics that shape the experience of pediatric GS is crucial to understanding how families approach decision-making about the test and how they incorporate the results into their family life. We conducted semi-structured interviews with parents and other primary caregivers of pediatric patients who were evaluated for a suspected genetic condition and who were recommended to have GS ( = 20) or who had recently completed GS ( = 21).

gene-based clinical decision support reduces statin-associated muscle symptoms risk with simvastatin.

variants are known to be a strong predictor of statin-associated muscle symptoms (SAMS) risk with simvastatin. The authors conducted a retrospective chart review on 20,341 patients who had genotyping to quantify the uptake of clinical decision support (CDS) for genetic variants known to impact SAMS risk. A total of 182 patients had 417 CDS alerts generated, and 150 of these patients (82.

Barriers and facilitators to physical education, sport, and physical activity program participation among children and adolescents with psychiatric disorders: a systematic review.

Children and adolescents with heterogeneous psychiatric disorders, of whom over 50% have a second psychiatric comorbidity, have low rates of physical activity and experience unique challenges to engaging in community-based exercise programming, school-based physical education programming, and targeted physical activity interventions. This contributes to elevated rates of gross and fine motor delays, lower mood and self-regulation, and increased risk of chronic diseases such as obesity and type 2 diabetes. Perform a systematic scoping review of the literature to assess known barriers to and facilitators of engaging in physical activity programming among children and adolescents with heterogeneous and/or comorbid psychiatric disorders, in order to improve engagement among this population in real world intervention settings.