Table 4.

Recommendations.

Improve parents’ general knowledge of NBS Educate parents about NBS during prenatal health visits in the third trimester as well as at the time of NBS blood specimen collection. Include fathers in NBS education. Explain the difference between a screening and diagnostic test. Explain that if a result is positive, the child will require additional testing to confirm or rule out the condition. Use multiple communication modes in parents’ preferred language (i.e., verbal, written, and educational videos). Consider implementing techniques designed to demonstrate understanding (i.e., use of teach-back).

Improve parents’ understanding of NBS positive results and next steps Avoid contacting parents when they will likely have difficulty obtaining answers to their questions from health care providers (i.e., Friday or just before a holiday). Limit wait time for follow-up diagnostic testing to no more than three days. Develop NBS protocols that ensure results will be communicated by health professionals who are knowledgeable about NBS, as well as about the condition for which the child screened positive, can accurately interpret the test results, and can explain the implications. If possible, communicate results to both parents in person. Recognize that parents whose primary languages are other than the national language in the region where the NBS program is conducted are at high risk for misunderstanding. Use interpreters when needed to ensure parents understand the NBS results and next steps. Explain the meaning of “positive” vs. “negative” NBS results. The meanings of these terms in the context of NBS are counterintuitive to lay parlance (i.e., negative NBS results are good news because no health conditions were found while positive results suggest the possible presence of a health condition). Explain what parents can anticipate during follow-up tests, and how they can prepare. Encourage both parents to attend appointments so they receive the same information simultaneously. Create parent-friendly centralized systems for scheduling appointments with specialists. If parents have other children, suggest they find an adult to stay at home with the children while the parents attend the appointment, or bring an additional adult to the clinic to care for the other children so parents can focus on the information provided. Offer parents realistic reassurance and instill a sense of hopefulness about the child’s future, as appropriate.

Reduce parents’ emotional distress and ensure their understanding of diagnostic test results and related implications Choose a clinic space for family counseling that is quiet, private, and has minimal distractions or interruptions. Begin the session by congratulating parents on the birth of the child. Recognize that parents’ psychological responses to positive NBS results can vary widely depending on their prior knowledge. Be careful not to assume anything about parents’ psychological reactions. Assess each parent’s emotional state, pre-existing knowledge (including genetics), ways of coping with uncertainty, and need for information. Inquire about the infant’s health. Use insights gleaned from this discussion to further assess parents’ psychological mindset and individualize information shared on the family’s particular circumstances. Identify parents’ most pressing concerns, express empathy, and address their concerns first. Tailor content, timing, and pace of information delivery based on parents’ preferences and understanding. Use checklists and sequence information in order of importance. Explain the meaning of false-positive results and any related implications. Create a reciprocal dialogue in which providers follow parents’ lead in conversation. Encourage parents to ask questions and share their thoughts/feeling. Use simple language, avoid jargon, and explain esoteric medical terms. Apply multiple communication modes, especially for complex concepts (i.e., verbal explanations, diagrams that illustrate genetic transmission, brochures that summarize content, and educational videos—all in the parent’s preferred language). Use teach-back methods to ensure parents’ accurate understanding. If parents misunderstand information provided, frame the error as a function of the provider’s failure to clearly communicate, not parents’ shortcomings. Direct parents to credible online resources. Offer parents realistic reassurance and hope about their child’s health and future. Provide parents opportunities to recontact providers if they have additional questions or concerns after the session. Send parents a follow-up letter, in their preferred language, that summarizes the session, test results, and next steps if relevant.

Support families beyond the NBS process Offer parents guidance in communicating genetic information with extended family members. As children mature, assist parents in identifying optimal timing and developmentally applicable ways to inform children about genetic findings and implications for the child’s future. Observe for signs of continued parental anxiety, unfounded perceptions of child vulnerability, or over utilization of health care services. If overprotectiveness arises, revisit parents’ understanding of NBS findings and correct misconceptions. Encourage developmentally appropriate child-rearing practices while respecting parents’ cultural norms. Refer the family for additional mental health assessment as needed.