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

Community Engagement, Trust, and Genetic Testing for Inherited Diseases Among Adopted Persons

We identify concerns pertinent to establishing trust necessary to support adoptees’ confidence in and uptake of genetic testing that might allow them to benefit from early screening and medical intervention. Using principles of community-based participatory research, our study sought to build a foundation of trust to document such perspectives. Three focus groups were held with 12 adult adoptees. Transcripts were analyzed using thematic content analysis. Comments highlighted aspects related to genomics and health history in the context of adoption, specifically: (1) trust in the intention of the research study; (2) trust that the adoption community will benefit from the results of research; and (3) trust in the protection from misuse and abuse of genomic data. Results reinforce the call for proper security of data and oversight of the ways it is used and point to the value of including researchers who are a part of the community under study

A Method to Assess the Organizing Behaviors Used in Physicians\u27 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

Assessing function and endurance in adults with spinal and bulbar muscular atrophy: validity of the adult myopathy assessment tool.

Purpose. The adult myopathy assessment tool (AMAT) is a performance-based battery comprised of functional and endurance subscales that can be completed in approximately 30 minutes without the use of specialized equipment. The purpose of this study was to determine the construct validity and internal consistency of the AMAT with a sample of adults with spinal and bulbar muscular atrophy (SBMA). Methods. AMAT validity was assessed in 56-male participants with genetically confirmed SBMA (mean age, 53 ± 10 years). The participants completed the AMAT and assessments for disease status, strength, and functional status. Results. Lower AMAT scores were associated with longer disease duration (r = -0.29; P \u3c 0.03) and lower serum androgen levels (r = 0.49-0.59; P \u3c 0.001). The AMAT was significantly correlated with strength and functional status (r = 0.82-0.88; P \u3c 0.001). The domains of the AMAT exhibited good internal consistency (Cronbach\u27s α  = 0.77-0.89; P \u3c 0.001). Conclusions. The AMAT is a standardized, performance-based tool that may be used to assess functional limitations and muscle endurance. The AMAT has good internal consistency, and the construct validity of the AMAT is supported by its significant associations with hormonal, strength, and functional characteristics of adults with SBMA. This trial is registered with Clinicaltrials.gov identifier NCT00303446

Clinical features of spinal and bulbar muscular atrophy

Spinal and bulbar muscular atrophy is an X-linked motor neuron disease caused by a CAG repeat expansion in the androgen receptor gene. To characterize the natural history and define outcome measures for clinical trials, we assessed the clinical history, laboratory findings and muscle strength and function in 57 patients with genetically confirmed disease. We also administered self-assessment questionnaires for activities of daily living, quality of life and erectile function. We found an average delay of over 5 years from onset of weakness to diagnosis. Muscle strength and function correlated directly with serum testosterone levels and inversely with CAG repeat length, age and duration of weakness. Motor unit number estimation was decreased by about half compared to healthy controls. Sensory nerve action potentials were reduced in nearly all subjects. Quantitative muscle assessment and timed 2 min walk may be useful as meaningful indicators of disease status. The direct correlation of testosterone levels with muscle strength indicates that androgens may have a positive effect on muscle function in spinal and bulbar muscular atrophy patients, in addition to the toxic effects described in animal models

Identification of genes responsible for osteoblast differentiation from human mesodermal progenitor cells

Single human bone marrow-derived mesodermal progenitor cells (MPCs) differentiate into osteoblasts, chondrocytes, adipocytes, myocytes, and endothelial cells. To identify genes involved in the commitment of MPCs to osteoblasts we examined the expressed gene profile of undifferentiated MPCs and MPCs induced to the osteoblast lineage for 1-7 days by cDNA microarray analysis. As expected, growth factor, hormone, and signaling pathway genes known to be involved in osteogenesis were activated during differentiation. In addition, 41 transcription factors (TFs) were differentially expressed over time, including TFs with known roles in osteoblast differentiation and TFs not known to be involved in osteoblast differentiation. As the latter group of TFs coclustered with osteogenesis-specific TFs, they may play a role in osteoblast differentiation. When we compared the gene expression profile of MPCs induced to differentiate to chondroblasts and osteoblasts, significant differences in the nature and/or timing of gene activation were seen. These studies indicate that in vitro differentiation cultures in which MPCs are induced to one of multiple cell fates should be very useful for defining signals important for lineage-specific differentiation.status: publishe

The limits of traditional approaches to informed consent for genomic medicine

This paper argues that it will be important for new genomic technologies to recognize the limits of traditional approaches to informed consent, so that other-regarding implications of genomic information can be properly contextualized and individual rights respected. Respect for individual autonomy will increasingly require dynamic consideration of the interrelated dimensions of individual and broader community interests, so that the interests of one do not undermine fundamental interests of the other. In this, protection of individual rights will be a complex interplay between individual and community concerns

Improving the quality of physician communication with rapid-throughput analysis and report cards

OBJECTIVE: Problems with clinician-patient communication negatively impact newborn screening, genetics, and all of healthcare. Training programs teach communication, but educational methods are not feasible for entire populations of clinicians. To address this healthcare quality gap, we developed a Communication Quality Assurance intervention. METHODS: Child health providers volunteered for a randomized controlled trial of assessment and a report card. Participants provided telephone counseling to a standardized parent regarding a newborn screening result showing heterozygous status for cystic fibrosis or sickle cell disease. Our rapid-throughput timeline allows individualized feedback within a week. Two encounters were recorded (baseline and after a random sample received the report card) and abstracted for four groups of communication quality indicators. RESULTS: 92 participants finished both counseling encounters within our rapid-throughput time limits. Participants randomized to receive the report card improved communication behaviors more than controls, including request for teach-back (p CONCLUSION: The rapid-throughput report card is effective at improving specific communication behaviors. PRACTICE IMPLICATIONS: Communication can be taught, but this project shows how healthcare organizations can assure communication quality everywhere. Further implementation could improve newborn screening, genetics, and healthcare in general