Faculty Mentor

Jill Fischer

Major/Area of Research

Genetic Counseling

Description

Ehlers-Danlos Syndrome (EDS) is a heterogeneous group of heritable connective

tissue disorders. Patients with EDS often show a wide range of

clinical manifestations, which most often include joint hypermobility, connective

tissue fragility and skin hyperextensibility. The symptomatology of

individuals with EDS-Hypermobile Type (EDS-HT) is complex and can range

in severity from mild to profound with several studies reporting multisystem

involvement. In addition to the aforementioned symptoms, there

is a significant risk for comorbid psychiatric disorders. Currently, genetics

professionals and genetic counselors act primarily as diagnosticians and

provide tertiary support for the ongoing care, coordination and management

of patients with EDS. Although genetic counselors work closely with

individuals diagnosed with EDS, there are no published guidelines on how to

best facilitate the genetic counseling process. Investigation into the Background,

Needs and Expectations (BNE) for genetic counseling is warranted

to provide better, more consistent services for this population. In this study,

an online survey investigating the BNE is administered to patients clinically

diagnosed with EDS that have been recruited from Columbia University

Medical Center. Given the acknowledged psychiatric stress and physiological

pain associated with EDS, it is likely that these patients will benefit from

a multidisciplinary approach to their care. Results are pending due to ongoing

data analysis.

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Background, Needs and Expectations for Genetic Counseling in Adults with Ehlers-Danlos Syndrome

Ehlers-Danlos Syndrome (EDS) is a heterogeneous group of heritable connective

tissue disorders. Patients with EDS often show a wide range of

clinical manifestations, which most often include joint hypermobility, connective

tissue fragility and skin hyperextensibility. The symptomatology of

individuals with EDS-Hypermobile Type (EDS-HT) is complex and can range

in severity from mild to profound with several studies reporting multisystem

involvement. In addition to the aforementioned symptoms, there

is a significant risk for comorbid psychiatric disorders. Currently, genetics

professionals and genetic counselors act primarily as diagnosticians and

provide tertiary support for the ongoing care, coordination and management

of patients with EDS. Although genetic counselors work closely with

individuals diagnosed with EDS, there are no published guidelines on how to

best facilitate the genetic counseling process. Investigation into the Background,

Needs and Expectations (BNE) for genetic counseling is warranted

to provide better, more consistent services for this population. In this study,

an online survey investigating the BNE is administered to patients clinically

diagnosed with EDS that have been recruited from Columbia University

Medical Center. Given the acknowledged psychiatric stress and physiological

pain associated with EDS, it is likely that these patients will benefit from

a multidisciplinary approach to their care. Results are pending due to ongoing

data analysis.