Event Title
Background, Needs and Expectations for Genetic Counseling in Adults with Ehlers-Danlos Syndrome
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.
Included in
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.