Genomic advances have contributed to a proliferation of newborn screening (NBS) programs. Psychosocial consequences of NBS have been identified as risks to these public health initiatives. Following PRISMA guidelines, this systematic review synthesizes findings from 92 evidence-based, peer-reviewed research reports published from 2000 through 2020 regarding psychosocial issues associated with NBS. Results describe parents’ knowledge of and attitudes towards NBS, reactions to and understanding of positive NBS results, experiences of communication with health providers, decisions about carrier testing, and future pregnancies. Findings also explain the impact of positive NBS results on parent–child relationships, child development, informing children about carrier status, family burden, quality of life, and disparities. In conclusion, psychosocial consequences of receiving unexpected neonatal screening results and unsolicited genetic information remain significant risks to expansion of NBS. Findings suggest that risks may be mitigated by improved parent NBS education, effective communication, individualized genetic counseling, and anticipatory developmental guidance. Clinicians need to take extra measures to ensure equitable service delivery to marginalized subpopulations. Future investigations should be more inclusive of culturally and socioeconomically diverse families and conducted in low-resource countries. Providing these countries with adequate resources to develop NBS programs is an essential step towards achieving international health equity.

The prevalence of children living with chronic health conditions is increasing worldwide and can disrupt family roles, relationships, function, and parental involvement in family caregiving. The purpose of this systematic review was to explore fathers’ experiences and involvement in caring for a child with a chronic condition. Systematic searches using seven databases were conducted. Study criteria included (1) peer-reviewed original research in English, Spanish, French, or Portuguese, (2) children less than 19 years of age with a chronic condition, (3) fathers (biological or guardian) as direct informants, and (4) outcomes addressing fathers’ experience, perceptions, and/or involvement in the child’s care. Data were synthesized from ten articles reflecting eight separate studies that utilized quantitative designs. Three areas of focus were identified: Family Functioning, Father’s Psychological Health, and Need for Support. Data suggested increased involvement from the father in caring for their child with a chronic condition was associated with improved family functioning, increased anxiety and distress, decreased self-esteem, and increased need for support. This review revealed a paucity of data regarding fathers’ experiences and involvement when caring for a child with a chronic condition, with that available primarily from developed countries. Rigorous empirical studies are needed to deepen understanding of how fathers are involved in the care of their child with a chronic condition.

Purpose: Known and suspected mutation carriers for hereditary nonpolyposis colorectal cancer are advised to have colonoscopies every 1 to 2 years to detect colorectal cancer. Little is known about colonoscopy completion in families suspected of having hereditary nonpolyposis colorectal cancer but without identified mutations. Methods: This study examined the effect of communication and encouragement on colonoscopy in families with and without known mutations. Twenty-three respondents from 11 families with indeterminate genetic test results were matched with 23 respondents from 11 families with mutation-positive results. Hierarchical modeling examined the effects of relational characteristics on time since last colonoscopy in index cases and their first-degree relatives. Results: Nearly one fifth of respondents were not screening appropriately. Time since last screening did not differ according to family mutation status. However, respondents who communicated about risk and received encouragement to screen from a greater proportion of named family members, and those who had a greater proportion of named family members involved in both communication and encouragement were significantly more likely to have a shorter time interval since last colonoscopy. Conclusion: Identifying patterns of interaction within at-risk families, regardless of gene mutation status, may be one avenue for promoting screening adherence.