“Doctors can read about it, they can know about it, but they've never lived with it”: How parents use social media throughout the diagnostic odyssey

Deuitch, Natalie; Beckman, Erika Snure; Halley, Meghan; Young, Jennifer L.; Reuter, Chloe; Kohler, Jennefer N.; Bernstein, Jonathan A.; Wheeler, Matthew T.; Ormond, Kelly E.; Tabor, Holly K.

doi:10.1002/jgc4.1438

Cited by 15 publications

(21 citation statements)

References 27 publications

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“…Our findings also resonate with aspects of Kohler's "social" domain, but their framework did not include parents' focus on the value of connecting with parents of children with the same condition for information, social support, and further research opportunities, which has been identified in other studies as an important benefit for patients and families managing complex health conditions (Deuitch et al, 2021;Mollison et al, 2020;Roberts et al, 2018).…”

Section: Discussionmentioning

confidence: 49%

Perceived utility and disutility of genomic sequencing for pediatric patients: Perspectives from parents with diverse sociodemographic characteristics

Halley

Young

Fernández

et al. 2022

American J of Med Genetics Pt A

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Given the limited therapeutic options for most rare diseases diagnosed through genomic sequencing (GS) and the proportion of patients who remain undiagnosed even after GS, it is important to characterize a broader range of benefits and potential harms of GS from the perspectives of families with diverse sociodemographic characteristics. We recruited parents of children enrolled in the Undiagnosed Diseases Network. Parents completed an in-depth interview, and we conducted a comparative content analysis of the data. Parents (n = 30) were demographically diverse, with 43.3% identifying as Hispanic, 33.3% primarily Spanish-speaking, and widely variable household income and education. Parents reported minimal changes in their child's health status following GS but did report a range of other forms of perceived utility, including improvements in their child's healthcare management and access, in their own psychological well-being, and in disease-specific social connections and research opportunities. Parents who received a diagnosis more frequently perceived utility across all domains; however, disutility also was reported by both those with and without a diagnosis. Impacts depended on multiple mediating factors, including parents' underlying expectations and beliefs, family sociodemographic characteristics, individual disease characteristics, and prior healthcare access. Our study suggests that the perceived utility of GS varies widely among parents and may depend on multiple individual, sociodemographic, and contextual factors that are relevant for preand post-GS counseling, for value assessment of GS, and for policymaking related to access to new genomic technologies.

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Section: Discussionmentioning

confidence: 49%

Perceived utility and disutility of genomic sequencing for pediatric patients: Perspectives from parents with diverse sociodemographic characteristics

Halley

Young

Fernández

et al. 2022

American J of Med Genetics Pt A

Self Cite

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“…Families experience myriad psychosocial challenges in providing loving care to their child with RD. Initially, the diagnostic odyssey of identifying the genetic underpinnings of a rare disease can raise many poignant issues for families [ 57 , 58 ]. Mendelian genetic disorders are primarily caused by alterations in one gene or abnormalities in the genome and may be seen since birth or visible in the family history.…”

Section: Resultsmentioning

confidence: 99%

“…Access to informational and interactive peer support for parent caregivers of children with RD is a substantial service to families [ 13 , 74 ]. These may take the form of in-person events, group offerings, virtual live meeting rooms, or asynchronous communication forums such as social media or chat rooms [ 57 ]. Despite the accessibility of virtual social support options, parent caregivers may experience significant behavioral health challenges that can be exacerbated by caregiving demands and all that comes with caring for RD [ 75 ].…”

Section: Resultsmentioning

confidence: 99%

Psychosocial Considerations for the Child with Rare Disease: A Review with Recommendations and Calls to Action

et al. 2022

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Rare diseases (RD) affect children, adolescents, and their families infrequently, but with a significant impact. The diagnostic odyssey undertaken as part of having a child with RD is immense and carries with it practical, emotional, relational, and contextual issues that are not well understood. Children with RD often have chronic and complex medical conditions requiring a complicated milieu of care by numerous clinical caregivers. They may feel isolated and may feel stigmas in settings of education, employment, and the workplace, or a lack a social support or understanding. Some parents report facing similar loneliness amidst a veritable medicalization of their homes and family lives. We searched the literature on psychosocial considerations for children with rare diseases in PubMed and Google Scholar in English until 15 April 2022, excluding publications unavailable in full text. The results examine RD and their psychosocial ramifications for children, families, and the healthcare system. The domains of the home, school, community, and medical care are addressed, as are the implications of RD management as children transition to adulthood. Matters of relevant healthcare, public policies, and more sophisticated translational research that addresses the intersectionality of identities among RD are proposed. Recommendations for interventions and supportive care in the aforementioned domains are provided while emphasizing calls to action for families, clinicians, investigators, and advocacy agents as we work toward establishing evidence-based care for children with RD.

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“…Furthermore, early testing using GS can reduce the number of tests required to obtain a diagnosis; eg, on average, almost 2 in-parallel, non-GS genetic tests were ordered per SouthSeq baby despite leading to an overall yield less than half that of GS. As such, GS has considerable potential to prevent the multiplicity of testing associated with the diagnostic odyssey 33,34 that many rare-disease patients experience.…”

Section: Discussionmentioning

confidence: 99%

Genome sequencing as a first-line diagnostic test for hospitalized infants

Bowling

Thompson

Finnila

et al. 2022

Genetics in Medicine

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SouthSeq is a translational research study that undertook genome sequencing (GS) for infants with symptoms suggestive of a genetic disorder. Recruitment targeted racial/ethnic minorities and rural, medically underserved areas in the Southeastern United States, which are historically underrepresented in genomic medicine research. Methods: GS and analysis were performed for 367 infants to detect disease-causal variation concurrent with standard of care evaluation and testing. Results: Definitive diagnostic (DD) or likely diagnostic (LD) genetic findings were identified in 30% of infants, and 14% of infants harbored an uncertain result. Only 43% of DD/LD findings were identified via concurrent clinical genetic testing, suggesting that GS testing is better for obtaining early genetic diagnosis. We also identified phenotypes that correlate with the likelihood of receiving a DD/LD finding, such as craniofacial, ophthalmologic, auditory, skin, and hair abnormalities. We did not observe any differences in diagnostic rates between racial/ethnic groups. Conclusion:We describe one of the largest-to-date GS cohorts of ill infants, enriched for African American and rural patients. Our results show the utility of GS because it provides early-in-life detection of clinically relevant genetic variations not detected by current clinical genetic testing, particularly for infants exhibiting certain phenotypic features.

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“Doctors can read about it, they can know about it, but they've never lived with it”: How parents use social media throughout the diagnostic odyssey

Cited by 15 publications

References 27 publications

Perceived utility and disutility of genomic sequencing for pediatric patients: Perspectives from parents with diverse sociodemographic characteristics

Perceived utility and disutility of genomic sequencing for pediatric patients: Perspectives from parents with diverse sociodemographic characteristics

Psychosocial Considerations for the Child with Rare Disease: A Review with Recommendations and Calls to Action

Genome sequencing as a first-line diagnostic test for hospitalized infants

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