Factors that influence parents' experiences with results disclosure after newborn screening identifies genetic carrier status for cystic fibrosis or sickle cell hemoglobinopathy.

OBJECTIVE: Newborn screening (NBS) identifies genetic carriers for sickle cell hemoglobinopathy and cystic fibrosis. We aimed to identify factors during initial NBS carrier results disclosure by primary care providers (PCPs) that influenced parents' experiences and reactions. METHODS: Open-ended responses from telephone interviews with 270 parents of carriers were analyzed using mixed-methods. Conventional content analysis identified influential factors; chi-square tests analyzed relationships between factors and parent-reported reactions. RESULTS: Parents reported positive (35%) or negative (31%) reactions to results disclosure. Parents' experiences were influenced by specific factors: content messages (72%), PCP traits (47%), and aspects of the setting (30%). Including at least one of five specific content messages was associated (p<0.05) with positive parental reactions; omitting at least one of four specific content messages was associated (p<0.05) with negative parental reactions. Parents reported positive reactions when PCPs avoided jargon or were perceived as calm. Parents reported negative reactions to jargon usage and results disclosure by voicemail. CONCLUSION: Parents identified aspects of PCP communication which influenced their reactions and results disclosure experiences. PRACTICE IMPLICATIONS: Our findings suggest ways PCPs may improve communication of carrier results. PCPs should provide specific content messages and consider how their actions, characteristics, and setting can influence parental reactions.

A qualitative secondary evaluation of statewide follow-up interviews for abnormal newborn screening results for cystic fibrosis and sickle cell hemoglobinopathy.

PURPOSE: The purpose of this qualitative analysis was to assess parental acceptability of large-scale, telephone follow-up regarding their infants' newborn screening (NBS) results, indicating carrier status for sickle cell hemoglobinopathy (SCH) and cystic fibrosis (CF). METHODS: Analysis of 195 interview transcripts focused on parents' responses to two open-ended questions: "What was your reaction to being called by me?" and "What do you think of the state NBS program having follow-up people calling parents like you?" Responses were coded using conventional content analysis procedures, and nonparametric tests were performed to analyze quantitative data. RESULTS: Most parents reported favorable opinions about the follow-up. Favorable opinions were associated with several emotional reactions to receiving follow-up (P <0.001) and three reasons why parents found the interview beneficial (P < 0.05): it provided information, clarified NBS results, and answered questions. Seventeen parents of SCH carriers reportedly had not been told their infant's NBS results and received them for the first time during the follow-up interview. CONCLUSION: Parents of CF and SCH carrier infants had favorable opinions and identified specific benefits to receiving follow-up contact. This analysis demonstrates an information deficit among carrier parents and illustrates the importance of NBS follow-up and need for comprehensive communication and counseling.

A method to assess the organizing behaviors used in physicians' counseling of standardized parents after newborn genetic screening.

Well-organized conversation can improve people's ability to comprehend and retain information. As part of a long-term effort to adapt Quality Improvement techniques for communication, we developed an explicit-criteria method to assess usage of three organizing behaviors (OBs): 'opening behaviors' to establish goals; 'structuring behaviors' to guide patients through conversation; and 'emphasizing behaviors' that signal a need for attention. Pairs of abstractors independently reviewed transcripts in a demonstration sample of conversations between physicians and standardized parents after newborn screening identifies carrier status for sickle cell disease. Criteria for at least one OB were identified in 50/84 transcripts (60%), including 27 with at least one opening behavior (32%), 5 with at least one structuring behavior (6%), and 38 with at least one emphasizing behavior (45%). The limited number of OBs raises concern about communication after newborn screening. Assessment and improvement of OB usage may improve understanding and allow parents to more actively participate in health care.

Effort required to contact primary care providers after newborn screening identifies sickle cell trait.

People with heterozygous status for sickle cell disease (also called sickle cell trait) are essentially healthy, but evidence of rare health problems has increased interest in screening adolescents and young adults prior to enlisting in athletics or military service. Ironically, almost everyone with sickle cell trait is already identified during routine newborn screening for sickle cell disease, but this identification may never reach the parents. As part of a larger statewide study of communication after newborn screening, we decided to document the amount of labor required to connect sickle cell trait screening results with primary care providers (PCPs). Case review methods examined records and call logs from the first 150 cases in a 42-month project. Our study procedures identified PCPs for 136 of 150 infants (90.6%); a total of 266 phone calls were needed. We identified 9 categories of experiences, ranging from incorrect baby names to restrictions on accepting Medicaid patients. Cases demonstrate that it is possible to connect with most PCPs after newborn screening despite warnings about difficulties with this population. Success was due to persistence, relationships with clinics and hospitals, and Internet search capabilities. If sickle cell trait identification is necessary to protect health, then only modest increases in effort will be needed to reduce disparities in service.

Improving communication between doctors and parents after newborn screening.

BACKGROUND: Newborn screening (NBS) enables early treatment, and some consider it a natural vehicle for genetic screening. Bioethicists argue for caution since families of infants with carrier status can develop psychosocial complications. This paper describes the methods and feasibility of Wisconsin's statewide project for quality improvement of communication and psychosocial outcomes after NBS. METHODS: When NBS identifies carrier status for cystic fibrosis or sickle cell, we contact primary care providers (PCPs), answer questions, and invite them to rehearse informing the parents. Three months later, we telephone the parents, assess knowledge and psychosocial outcomes, provide counseling, and assist with self-referral to further resources. Afterward, evaluation surveys are provided to the parents, to be returned anonymously. RESULTS: Birthing facilities provided accurate PCP names for 73% of 817 infants meeting inclusion criteria; we identified PCPs for 21% more. We reached 47.3% of PCPs in time to invite a rehearsal; 60% of these accepted. We successfully called 50.2% of eligible parents; 61% recalled a PCP explanation, and 48.5% evaluated the explanation favorably. Evaluations by parents with limited health literacy were less favorable. CONCLUSION: It is feasible to follow parents for psychosocial outcomes after NBS. Preliminary data about communication is mixed, but further data will describe psychosocial outcomes and investigate outcomes' associations with communication.