BRCA testing utilization among commercially insured women with breast or ovarian cancer.

Purpose: This report examines utilization of germline BRCA genetic testing among women with breast or ovarian cancer in the context of current clinical guidelines for testing.

Methods: Linked IQVIA commercial claims and electronic medical record data were used to analyze BRCA test utilization among women aged 18-64 years with newly diagnosed breast cancer or ovarian cancer during 2016-2021, excluding 2018. Log-binomial regression models were used to estimate prevalence ratios (PRs) comparing utilization of testing by cancer type, age group, race, and year.

BRCA Genetic Testing Utilization and Expenditures among Privately Insured Adults in the United States, 2013-2022.

Purpose: Recent clinical guidelines have broadened the criteria for BRCA counseling and testing for women and men, including indications based on family history, personal history, and current diagnosis of breast, ovarian, pancreatic, and prostate cancer.

Methods: Using claims data from 2013-2022, we identified BRCA testing using procedure codes to evaluate annual utilization, median expenditures per enrollee, and the percentage of zero out-of-pocket (OOP) expenditures by sex among enrollees aged 18-64 years continuously enrolled within calendar years. We examined BRCA utilization by metropolitan status, and indications RESULTS: Annual BRCA testing utilization among women (and men) increased 10.

Health Care Encounters and Expenditures Among Children With Diagnosed Tic Disorders and Co-Occurring Disorders, 2022.

Objective: This study aimed to use claims data to calculate incremental 2022 health care expenditure estimates for children with tic disorders relative to children without tic disorders.

Methods: Children ages 6-17 years with tic disorders were identified in the Merative MarketScan Multi-State Medicaid (N=6,277) and MarketScan Commercial (employer-sponsored insurance [ESI]; N=6,955) databases via inpatient and outpatient claims and were compared with children without tic disorders, matched at a 1:8 ratio on age, sex, and coverage type. Presence of 12 types of co-occurring disorders was identified.

Evidence Regarding Duchenne Muscular Dystrophy Newborn Screening.

Variants in the DMD gene, located on the X chromosome, cause Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD). DMD reportedly affects about 2 per 10,000 newborn males, leading to progressive weakness and premature death, typically from respiratory or cardiac complications. The average age of diagnosis in the United States (US) over the past four decades has been 4.

Evidence Regarding Metachromatic Leukodystrophy Newborn Screening.

Metachromatic leukodystrophy (MLD) is a lysosomal disorder affecting about 1 per 100,000 newborns. It is caused by biallelic variations in the arylsulfatase A (ARSA) gene, leading to deficiency of ARSA enzyme activity leading to elevation of sulfatides. Most affected individuals have the late-infantile or early-juvenile phenotype, associated with significant and progressive neurologic degeneration and death.

Evidence and Recommendation for Infantile Krabbe Disease Newborn Screening.

Krabbe disease (KD), which affects 0.3-2.6 per 100 000 live births, is an autosomal recessive lysosomal disorder caused by variants in the GALC gene that reduce galactosylceramidase (GALC) activity, leading to psychosine accumulation, cerebral white matter degeneration, and peripheral neuropathy.

Association of genotypes with hemochromatosis-related phenotypes in the All of Us research program.

Purpose: Type 1 hereditary hemochromatosis (HH) can result in iron overload and liver disease if not detected and treated early. Most cases are found among people homozygous for p.Cys282Tyr variants.

Administratively reported fetal alcohol spectrum disorders in commercially- and Medicaid-insured samples of children in the United States, 2015 - 2021.

Background: Fetal alcohol spectrum disorders (FASDs) are lifelong conditions that can occur in a person with prenatal alcohol exposure. Although studies using intensive, in-person assessments of children in selected communities have found higher estimates of children with FASDs than studies of healthcare claims data, claims-based studies provide more current information about individuals with recognized FASDs from diverse populations. We estimated the proportion of children with administratively reported FASDs in two large healthcare claims databases.

Mental Health Care Utilization Among Parents of Children With Cancer.

Importance: Caring for children diagnosed with cancer may adversely affect the mental health (MH) of parents.

Objective: To characterize utilization of MH services among parents of children with vs without cancer using nationwide commercial claims data.

Design, Setting, And Participants: For this cross-sectional study, the Merative MarketScan Commercial Claims Database was used to identify continuously insured families of children treated for cancer (aged ≤21 years at diagnosis) during 2010 to 2018, compared with families who matched eligibility criteria but did not have a child with a cancer history.

Estimates of congenital cytomegalovirus-attributable infant mortality in high-income countries: A review.

As many as 5%-10% of infants with symptomatic congenital cytomegalovirus (cCMV) disease, or 0.4%-0.8% of all liveborn infants with cCMV infection, die in early infancy in high-income countries.

Professional Fees for U.S. Hospital Care, 2016-2020.

Background: The latest comprehensive diagnosis-specific estimates of hospital professional fees relative to facility fees are from 2004 to 2012.

Objective: Update professional fee ratio (PFR) estimates to improve cost analysis opportunities with hospital discharge data sources and compare them with previous PFR estimates.

Subjects: 2016-2020 MarketScan inpatient admissions and emergency department (ED) treat and release claims.

Vaccine value profile for cytomegalovirus.

Cytomegalovirus (CMV) is the most common infectious cause of congenital malformation and a leading cause of developmental disabilities such as sensorineural hearing loss (SNHL), motor and cognitive deficits. The significant disease burden from congenital CMV infection (cCMV) led the US National Institute of Medicine to rank CMV vaccine development as the highest priority. An average of 6.

Depressive and anxiety disorders and antidepressant prescriptions among insured children and young adults with congenital adrenal hyperplasia in the United States.

Background: Dysfunction in the hypothalamic-pituitary-adrenal axis has been associated with depressive and anxiety disorders. Little is known about the risk for these disorders among individuals with congenital adrenal hyperplasia (CAH), a form of primary adrenal insufficiency.

Objective: We investigated the prevalence of depressive and anxiety disorders and antidepressant prescriptions in two large healthcare databases of insured children, adolescents, and young adults with CAH in the United States.

Evidence and Recommendation for Guanidinoacetate Methyltransferase Deficiency Newborn Screening.

Guanidinoacetate methyltransferase (GAMT) deficiency is an autosomal recessive disorder of creatine biosynthesis due to pathogenic variants in the GAMT gene that lead to cerebral creatine deficiency and neurotoxic levels of guanidinoacetate. Untreated, GAMT deficiency is associated with hypotonia, significant intellectual disability, limited speech development, recurrent seizures, behavior problems, and involuntary movements. The birth prevalence of GAMT deficiency is likely between 0.

Inpatient Hospitalization Costs Associated with Birth Defects Among Persons Aged <65 Years - United States, 2019.

Changing treatments and medical costs necessitate updates to hospitalization cost estimates for birth defects. The 2019 National Inpatient Sample was used to estimate the service delivery costs of hospitalizations among patients aged <65 years for whom one or more birth defects were documented as discharge diagnoses. In 2019, the estimated cost of these birth defect-associated hospitalizations in the United States was $22.

Body Mass Index and Associated Medical Expenditures in the US Among Privately Insured Individuals Aged 2 to 19 Years in 2018.

Importance: Nearly 40% of US youth aged 2 to 19 years do not have a body mass index (BMI) in the healthy weight category. However, there are no recent estimates for BMI-associated expenditures using clinical or claims data.

Objective: To estimate medical expenditures among US youth across all BMI categories along with sex and age groups.

Implementation of Newborn Screening for Conditions in the United States First Recommended during 2010-2018.

The Recommended Uniform Screening Panel (RUSP) is the list of conditions recommended by the US Secretary of Health and Human Services for inclusion in state newborn screening (NBS). During 2010-2022, seven conditions were added to the RUSP: severe combined immunodeficiency (SCID) (2010), critical congenital heart disease (CCHD) (2011), glycogen storage disease, type II (Pompe) (2015), mucopolysaccharidosis, type I (MPS I) (2016), X-linked adrenoleukodystrophy (X-ALD) (2016), spinal muscular atrophy (SMA) (2018), and mucopolysaccharidosis, type II (MPS II) (2022). The adoption of SCID and CCHD newborn screening by programs in all 50 states and three territories (Washington, D.

Trends in Stimulant Prescription Fills Among Commercially Insured Children and Adults - United States, 2016-2021.

Prescription stimulant use, primarily for the treatment of attention-deficit/hyperactivity disorder (ADHD), has increased among adults in the United States during recent decades, while remaining stable or declining among children and adolescents (1,2). MarketScan commercial claims data were analyzed to describe trends in prescription stimulant fills before and during the COVID-19 pandemic (2016-2021) by calculating annual percentages of enrollees aged 5-64 years in employer-sponsored health plans who had one or more prescription stimulant fills overall and by sex and age group. Overall, the percentage of enrollees with one or more prescription stimulant fills increased from 3.