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Ataxia‐telangiectasia (A‐T) is a rare, childhood‐onset, multi‐systemic, progressive condition. Parents of children with rare diseases like A‐T are emotionally, socially, and psychologically impacted by the diagnosis. To examine the parental perspective of having a child with A‐T, and to better understand how parents cope with an A‐T diagnosis, we conducted 10 semistructured interviews. Thematic analysis using a phenomenological approach resulted in five themes: (1) Parental responsibilities change as the result of an A‐T diagnosis, (2) An A‐T diagnosis brings about shifts in identity for all family members, (3) Parental coping changes over time, (4) A‐T parents experience continuous uncertainty and a lack of stability, and (5) A‐T parents receive support from various people, places, and resources. Many parents fostered resilience by adopting a present‐centered and positive mindset about the impacts of the diagnosis. Parents also became A‐T experts and used their knowledge to advocate for their children and help mentor other parents. Responses from parents indicated a need for providers to incorporate parental mental well‐being check‐ins to pediatric rare disease appointments and welcome parents as respected members of their children's care team. Genetic counselors are in a unique position to help coordinate complex care for children with A‐T (and other rare diseases) and provide support to family members using the framework of family‐centered care. This paper offers suggestions for expanding support and learning to cope with a difficult diagnosis for parents of children with rare diseases, specifically A‐T, based on stories from parents of children with A‐T. [ABSTRACT FROM AUTHOR]

Access to genetic testing, namely, diagnostic exome sequencing (DES), has significantly improved, subsequently increasing the likelihood of discovering incidental findings, such as misattributed relationships and specifically misattributed parentage (MP). Until the recently published ACMG statement, there had been no consensus for laboratories and clinicians to follow when addressing such findings. Family‐based genomic testing is valuable for accurate variant interpretation but has the potential to uncover misattributed familial relationships. Here, we present the first published data on the frequency of MP identified through DES at a clinical laboratory. We also investigated clinicians' decisions on how to proceed with analysis, reporting, and disclosure. A database of 6,752 families who underwent parent‐proband ('trio') DES was retrospectively reviewed for molecular identification of MP and clinicians' MP disclosure decisions. Among 6,752 trios, 39 cases of MP were detected (0.58%). Non‐paternity was detected in all cases, and in one instance, non‐maternity was also identified. All clinicians decided to proceed by omitting the MP individual from the analysis. Clinicians chose to proceed with duo analysis (87.2%), modify information on the report (74.4%), and communicate MP results to the mother (71.8%), suggesting a trend toward not disclosing to the putative father or proband. The data show that trio DES involves a chance of detecting MP and that clinician disclosure practices do not appear to routinely include direct disclosure to the putative father. MP identified in our parent‐proband trios sent in for DES is lower than the reported frequency of MP in the general population due in part to ascertainment bias as families with known or suspected MP are presumably less likely to pursue trio testing. These data may inform laboratory policies and clinician practices for addressing incidental findings such as MP. [ABSTRACT FROM AUTHOR]