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Pompe disease was added to the recommended uniform screening panel to avoid diagnostic delay and implement prompt treatment, specifically for those with infantile-onset Pompe disease (IOPD). However, two-thirds of newborns with abnormal newborn screening (NBS) for Pompe disease have late-onset Pompe disease (LOPD). An early diagnosis of LOPD raises the question of when symptoms will arise which is challenging for parents, patients, and providers managing an LOPD diagnosis.This study aimed to characterize parents’ experiences of their child’s LOPD diagnosis and medical monitoring to understand patient-provider relationships and adherence challenges. A qualitative descriptive approach was chosen to gain an in-depth understanding of parental experiences. Eight mothers were interviewed to assess their experiences. Interview questions were designed around experiences with positive NBS and diagnosis, experiences with living with the diagnosis, and experiences with medical monitoring. Parents were asked what they reported as their child’s monitoring plan, and what changes they wanted regarding monitoring. Interview transcripts were analyzed through conventional content analysis. Results of this study found that negative emotions like fear were more frequent with communication of the NBS. Parents expressed uncertainty surrounding age of symptom onset and the future. The medical monitoring experience increased worry but parents expressed that being vigilant with management reassured them. In summary, this study suggests parental emotions shifted to thankfulness and reassurance with time and education about the condition and monitoring plan. These findings can guide providers on how to care for this patient population and be sensitive to the psychosocial implications of receiving a positive NBS and an LOPD diagnosis.

Purpose: Whole exome sequencing (WES) has been found to be a useful clinical diagnostic tool; however, the effect of WES results on patient management has not been extensively studied. The current study investigated changes to medical management and genetic counseling options following WES results as well as the differences in the changes between those with positive and negative results.Methods: Seventy-eight individuals who had WES at Cincinnati Children’s Hospital Medical Center were included in the study. They were separated into two groups: positive results and negative results. Their electronic medical records were retrospectively reviewed to collect data pertaining to medical management and genetic counseling options pre- and post-WES results. The absence (no) or presence (yes) of each outcome was recorded pre- and post-WES results and then analyzed using McNemar’s tests to determine if there was a significant pre- to post-WES difference; the positive and negative groups were compared using Fisher’s exact tests.Results: Of the 78 participants included in the study, 37 (47.4%) had positive results and 41 (52.6%) had negative results on WES. The majority (97%) of all participants received one or more changes to medical management and/or genetic counseling options following WES results. Using McNemar’s tests, there were statistically significant differences in all categories for those with positive results (genetic testing p

Background: In order to recognize the value of genetic counselors, outside institutions such as third party payers require evidence that genetic counselors contribute to positive patient outcomes. Client adherence to medical management outcomes has not been previously studied as a possible outcome of genetic counseling. Patient adherence may result in improved medical outcomes. Objectives: To determine if the inclusion of a genetic counselor in a patient’s initial genetics visit impacted patient adherence to medical management recommendations, by comparing the mean number of medical management recommendations completed by patients when a genetic counselor (GC) was involved in the patient’s initial visit versus when only genetics physicians were involved. Secondarily, to determine if the GC and non-GC groups differ by number of days between a patient’s test results being finalized and the patient receiving the test results. And, to determine if the number of concepts recorded in the psychosocial section of the medical intake form following an initial visit to a general genetics clinic differ between the GC and non-GC groups.Methods: This retrospective chart review included 198 pediatric patients seen for their initial visit at general genetics clinic at Cincinnati Children’s Hospital Medical Center in 2008. Half were seen only by a geneticist and/or genetics resident (the non-GC group) and half were seen by a geneticist and a genetic counselor (the GC-group). Medical management recommendations from the initial visits and evidence of adherence to those recommendations were abstracted from the medical record; adherence rates were compared between the GC and non-GC groups. For the secondary outcomes, dates and test types were abstracted from results of tests completed at the initial visit, and concept types were coded from the psychosocial section of the intake form. The GC and non-GC groups were compared by number of days between a test result being finalized and the patient receiving the test results, and the number of concepts recorded in the psychosocial section of the medical intake form.Results: Client adherence had a strong association with recommendation type; however, while type of management recommendation had a larger impact on adherence, involvement of a GC significantly improved adherence in all three management recommendation categories. For results that were reported to the family, genetic counselors and physicians in this study were equally timely in calling out test results. There was a non-significant trend in the number of psychosocial concepts recorded between the GC and non-GC groups, with the GC-group having slightly more concepts recorded. Discussion: Involvement of a genetic counselor during an initial pediatric genetics visit may be associated with increased patient adherence. Further research is needed to determine if this association applies in other genetic counseling settings and if improved adherence results in improved medical outcomes.