Using a Communication Passport within a Multidisciplinary Genetics Clinic

Santoro, Stephanie L.; Brenner-Miller, Diana; Cottrell, Clorinda; Bress, Joy; Torres, Amy; Skotko, Brian G.

doi:10.1097/pq9.0000000000000472

Cited by 3 publications

(3 citation statements)

References 16 publications

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Section: Discussionmentioning

confidence: 99%

“…This cohort consisted of individuals in one DS clinic, the MGH DSP; may not generalize to other DS clinics and may not be representative of the larger DS population. The demographic traits of the database‐enrolled cohort had a racial diversity which aligned with the clinic population as a whole suggesting that the individuals who elect to participate in the research database represent the clinic well (S. L. Santoro et al, 2021; S. L. Santoro, Howe, et al, 2022). Additional limitations included that genetic testing information was captured through retrospective chart review, and the information available in the EMR may be limited, and we did not collect information on individuals with DS who might have had genetic testing offered, or ordered, but not completed.…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Beyond chromosome analysis: Additional genetic testing practice in a Down syndrome clinic

Harisinghani,

Raffaele,

Zawatsky

et al. 2023

American J of Med Genetics Pt C

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Down syndrome (DS) and other genetic conditions have been reported to co‐occur in the same person. This study sought to examine the genetic evaluation beyond chromosome analysis of individuals with DS at one DS specialty clinic. Retrospective chart review of genetic testing performed beyond chromosome analysis, the indication for the genetic testing, and the result of the genetic testing from the electronic health record was performed. Demographic information was collected and summary statistics, including mean and frequency, were calculated. The charts of 637 individuals with DS were reviewed. Overall, 146 genetic tests in addition to routine chromosome analysis were performed on 92 individuals with DS. Tests included chromosomal microarray, gene panels, and whole exome sequencing. Tests were performed for the indication of: autism spectrum disorder, celiac disease, dementia, hematologic diseases, and others. Eleven individuals with DS were found to have a second genetic diagnosis. Individuals with DS in one multidisciplinary clinic for DS had a variety of genetic tests beyond chromosomes completed, for varied indications, and with some abnormal results leading to additional diagnoses. Additional genetic testing beyond chromosome analysis is a reasonable consideration for patients with DS who have features suggestive of a secondary diagnosis.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Beyond chromosome analysis: Additional genetic testing practice in a Down syndrome clinic

Harisinghani,

Raffaele,

Zawatsky

et al. 2023

American J of Med Genetics Pt C

Self Cite

View full text Add to dashboard Cite

show abstract

“…This effort to understand our clinical workflow, processes, and collect baseline quality improvement data was one of many ongoing quality improvement initiatives in the MGH DSP (Santoro, Brenner‐Miller, et al, 2021; Santoro, Donelan, et al, 2021). A waiver of documentation of consent was obtained.…”

Section: Methodsmentioning

confidence: 99%

Assessing co‐occurring mental health conditions in a multidisciplinary Down syndrome clinic and the role of family history

Raffaele

Zawatsky

Cottrell

et al. 2022

American J of Med Genetics Pt A

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Compared to the general population, individuals with Down syndrome (DS) are at a significantly increased risk to develop mental health conditions. This study sought to examine individuals with DS and co-existing mental health comorbidities at one DS specialty clinic. Retrospective chart review of medical records including demographics, genetic testing history, personal and familial mental health history, referrals for mental health indications, and recommendations was performed. Summary statistics, logistic regression, and log of odds were converted to odd ratios to assess associations and significance. The charts of 327 patients, average 19.4 years of age (1-70), were reviewed. Nearly half the participants (42.2%) had at least one diagnosis of a mental health condition. Those with a family history were significantly more likely to have a personal diagnosis of a mental health condition than those without a family history (p < 0.01). Moreover, those who completed referrals often received medical management recommendations (86%). This study highlights the prevalence of mental health comorbidities among individuals with DS, and the referral process for mental health conditions, at one DS specialty clinic. Further research is needed to investigate our family history findings, and to determine if these results are generalizable across other DS clinics.

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Adherence to adult clinical practice guidelines for Down syndrome

Wood,

Gochyyev,

Santoro

2024

American J of Med Genetics Pt A

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Adults with Down syndrome (DS) have unique health care needs with evidence‐based care guidelines to address these. Yet, the 2020 adult guidelines were unstudied; we aimed to assess adherence to these guidelines. We reviewed clinical and demographic data from medical charts of 327 adults with DS who were seen in the MGH DSP. We calculated adherence to care guidelines and analyzed correlations between both demographic traits and clinical results. Mean adherence rate to each of the nine adult guidelines was 67.3%. Adherence rates that were below our mean adherence rate included colonoscopy (42.9%), iron (41.9%), audiology specialist (35.8%), and audiogram (35.2%). We found four significant correlations: assigned females at birth had a significantly higher body mass index (BMI) than assigned males at birth (p < 0.001), Hispanic patients had a significantly higher BMI than other patients (p = 0.015), Hispanic patients had a significantly higher rate of diabetes than other patients (p = 0.036), and Black patients had a significantly lower rate of hypothyroidism than other patients (p = 0.004). We assessed the adherence rates to adult DS guidelines and highlighted disparities in healthcare for patients with DS to inform clinicians on how to improve care for patients with DS.

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Using a Communication Passport within a Multidisciplinary Genetics Clinic

Abstract: Supplemental Digital Content is available in the text.

Cited by 3 publications

References 16 publications

Beyond chromosome analysis: Additional genetic testing practice in a Down syndrome clinic

Beyond chromosome analysis: Additional genetic testing practice in a Down syndrome clinic

Assessing co‐occurring mental health conditions in a multidisciplinary Down syndrome clinic and the role of family history

Adherence to adult clinical practice guidelines for Down syndrome

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