Family Genetic Risk Communication and Reverse Cascade Testing in the BabySeq Project.

Purpose: Genomic sequencing of newborns (NBSeq) can initiate disease surveillance and therapy for children, and may identify at-risk relatives through reverse cascade testing. We explored genetic risk communication and reverse cascade testing among families of newborns who underwent exome sequencing and had a risk for autosomal dominant disease identified.

Methods: We conducted semi-structured interviews with parents of newborns enrolled in the BabySeq Project who had a pathogenic or likely-pathogenic (P/LP) variant associated with an autosomal dominant (AD) childhood- and/or adult-onset disease returned.

Trisomy 21 and Congenital Heart Disease: Impact on Health and Functional Outcomes From Birth Through Adolescence: A Scientific Statement From the American Heart Association.

Due to improvements in recognition and management of their multisystem disease, the long-term survival of infants, children, and adolescents with trisomy 21 and congenital heart disease now matches children with congenital heart disease and no genetic condition in many scenarios. Although this improved survival is a triumph, individuals with trisomy 21 and congenital heart disease have unique and complex care needs in the domains of physical, developmental, and psychosocial health, which affect functional status and quality of life. Pulmonary hypertension and single ventricle heart disease are 2 known cardiovascular conditions that reduce life expectancy in individuals with trisomy 21.

It is Time to Screen for Homozygous Familial Hypercholesterolemia in the United States.

Homozygous familial hypercholesterolemia (HoFH) is an ultra-rare inherited condition that affects approximately one in 300,000 people. The disorder is characterized by extremely high, life-threatening levels of low-density lipoprotein (LDL) cholesterol from birth, leading to significant premature cardiovascular morbidity and mortality, if left untreated. Homozygous familial hypercholesterolemia is severely underdiagnosed and undertreated in the United States (US), despite guidelines recommendations for universal pediatric lipid screening in children aged 9-11.

ACCESS: an empirically-based framework developed by the International Nursing CASCADE Consortium to address genomic disparities through the nursing workforce.

Efforts are needed across disciplines to close disparities in genomic healthcare. Nurses are the most numerous trained healthcare professionals worldwide and can play a key role in addressing disparities across the continuum of care. ACCESS is an empirically-based theoretical framework to guide clinical practice in order to ameliorate genomic disparities.

Being a "Good Parent" to a NICU Infant With a Major Congenital Anomaly.

Background: In the United States, up to one-third of infants with a congenital anomaly require neonatal intensive care unit (NICU) hospitalization. Parents of these infants may have different decision-making priorities, which may be influenced by the timing of the infant's diagnosis.

Purpose: (1) To compare the ranked importance of decision-making beliefs for parents of infants who received a prenatal versus postnatal congenital diagnosis and (2) explore how parents describe their decision-making beliefs.

Parents' decision-making regarding whether to receive adult-onset only genetic findings for their children: Findings from the BabySeq Project.

Purpose: Most professional guidelines recommend against genetic screening for adult-onset only (AO) conditions until adulthood, yet others argue that there may be benefit to disclosing such results. We explored parents' decision-making on this issue in the BabySeq Project, a clinical trial of newborn genomic sequencing.

Methods: We conducted interviews with parents (N = 24) who were given the option to receive actionable AO results for their children.

Exploring Rare Disease Patient Attitudes and Beliefs regarding Genetic Testing: Implications for Person-Centered Care.

Unlabelled: Most rare diseases are genetic in etiology and characterized by a 'diagnostic odyssey'. Genomic advances have helped speed up the diagnosis for many rare disorders, opening new avenues for precision therapies. Little is known about patient attitudes, experiences, and beliefs about genetic testing for the rare disease congenital hypogonadotropic hypogonadism (CHH).

Strategies for success in a nursing PhD program and beyond.

Purpose: The purpose of this article is to inform newly enrolled PhD students of program expectations, strategies for success, and next steps in the career of a nurse scientist.

Methods: We used empirical evidence and insights from the authors to describe strategies for success during a nursing PhD program and continued career development following graduation.

Findings: Measures of success included maintaining health, focus, integrity, and a supportive network, identifying mentors, pursuing new knowledge and advancing research to transform health outcomes.

Employing a mobile health decision aid to improve decision-making for patients with advanced prostate cancer and their decision partners/proxies: the CHAMPION randomized controlled trial study design.

Background: Metastatic prostate cancer remains a lethal malignancy that warrants novel supportive interventions for patients and their decision partners and proxies. Decision aids have been applied primarily to patients with localized disease, with minimal inclusion of patients with advanced prostate cancer and their decision partners. The use of a community patient navigator (CPN) has been shown to have a positive supportive role in health care, particularly with individuals from minority populations.

Effects of participation in a U.S. trial of newborn genomic sequencing on parents at risk for depression.

Much emphasis has been placed on participant's psychological safety within genomic research studies; however, few studies have addressed parental psychological health effects associated with their child's participation in genomic studies, particularly when parents meet the threshold for clinical concern for depression. We aimed to determine if parents' depressive symptoms were associated with their child's participation in a randomized-controlled trial of newborn exome sequencing. Parents completed the Edinburgh Postnatal Depression Scale (EPDS) at baseline, immediately post-disclosure, and 3 months post-disclosure.

Current Trends in Genetics and Neonatal Care.

Background: Genetic and genomic health applications are rapidly changing. A clear and updated description of these applications for the neonatal population is needed to guide current nursing practice.

Purpose: To provide scientific evidence and guidance on the current genetic and genomic applications pertinent to neonatal care.

Mentoring in research-focused doctoral nursing programs and student perceptions of career readiness in the United States.

Background: Research-focused doctorate nursing programs are expanding and seek to double the number of doctoral-prepared nurses by 2020. There is little empirical evidence of the contributions of mentoring to doctoral nursing students' readiness for their desired careers.

Purpose: This study assessed characteristics and practices of nursing PhD students, the mentoring practices of their advisors, and the likelihood of self-reported career readiness.

The Influence of Parents' Religiosity or Spirituality on Decision Making for Their Critically Ill Child: An Integrative Review.

Religion and/or spirituality are important values for many parents of critically ill children; however, how religion and/or spirituality may influence which treatments parents accept or decline for their child, or how they respond to significant events during their child's illness treatment, remains unclear. To summarize the literature related to the influence of parents' religiosity or spirituality on decision making for their critically ill child. Integrative review, using the Whittemore and Knafl approach.

Reducing Preschool Behavior Problems in an Urban Mental Health Clinic: A Pragmatic, Non-Inferiority Trial.

Objective: This pragmatic, randomized, non-inferiority trial compared the effectiveness and cost of group-based parent management training with mastery-based individual coaching parent management training in a low-income, predominantly African American sample.

Method: Parents seeking treatment for their 2- to 5-year-old children's behavior problems in an urban fee-for-service child mental health clinic were randomized to the Chicago Parent Program (CPP; n = 81) or Parent-Child Interaction Therapy (PCIT; n = 80). Consent followed clinic intake and diagnostic assessment and parent management training was delivered by clinicians employed at the clinic.

Patient navigation and clinical trial participation: A randomized controlled trial design.

Background: To our knowledge, no published studies utilizing a randomized controlled design have examined the efficacy of patient navigation for improving clinical trial enrollment.

Methods: This patient navigation and clinical trial participation study is a randomized controlled trial to assess the effect of a patient navigator on enrollment into therapeutic cancer clinical trials. Participants are randomly assigned to high intensity, patient navigator-delivered patient educational materials (PEM) and needs assessment vs.