One major purpose of the IC3D Corneal Dystrophy Nomenclature Revision was to include genetic information with a goal of facilitating investigation into the pathogenesis, treatment, and perhaps even pr...
To date, almost 600 genes have been associated with ocular genetic diseases. As these discoveries are made, clinical genetic testing continues to grow and become a more common element in the diagnosti...
We distributed a REDCap survey to parents of pediatric patients in the Indiana University Ocular Genetics Clinic and through the Foundation Fighting Blindness MyRetinaTracker database to examine facto...
Parents were primarily motivated by the opportunity to learn about their child's prognosis, formal diagnosis, and possible treatment options. Parents were most interested in discussing prognosis, adap...
Parents seem to be generally satisfied by the care from their ocular genetics team. However, families' desires are not being fully met, especially with information about prognosis and support resource...
Isolated frontosphenoidal craniosynostosis (IFSC) is a rare congenital defect defined as premature fusion of the frontosphenoidal suture in the absence of other suture fusion. Until now, IFSC was rega...
Genetic testing has proven utility in identifying and diagnosing individuals with FH. Here we outline the current landscape of genetic testing for FH, recommendations for testing practices and the eff...
Alternatives to the traditional genetic testing and counseling paradigm for FH are being explored including expanding screening programs, testing in primary care and/or cardiology clinics, leveraging ...
Embryo selection in Familial amyloid polyneuropathy eradicates the disease, but the widespread application of preimplantation genetic testing (PGT) for this monogenic disease still requires greater po...
Familial amyloid polyneuropathy is a fatal, chronic, hereditary autosomal dominant neurodegenerative disorder caused by a single nucleotide mutation in the transthyretin gene. The disease courses with...
The application of PGT would prevent the disease, the birth of children with this devastating disease and the enormous health costs associated. For PGT to become the first reproductive option for pati...
The aim of this study is to describe two clinical cases, which we believe highlight the need to consider routine genetic testing of all patients with new diagnosis of a tympanic paraganglioma (PGL)....
Two patients seen in the ENT clinic at a tertiary center with a diagnosis of isolated tympanic PGL, without family history....
Since 2016, all patients with newly diagnosed isolated tympanic PGL (glomus tympanicum) are offered review by the clinical genetic team and genetic testing of a panel of paraganglioma/phaeochromocytom...
We describe the results of genetic testing, the clinical course and discuss the ongoing implications for management....
Both cases were identified to have a pathogenic variant in the SDHB gene after initial surgery. The clinical course for both cases was complicated by disease recurrence, as well as metastatic and secr...
These two cases reinforce the importance of offering genetic testing for all cases of isolated tympanic PGL. The discovery of a significant underlying genetic variant may affect management decisions a...
A significant challenge limiting the comprehensive utilization of genomic medicine is the lack of timely access to genetics specialists. Although neurologists see patients for whom genetic testing sho...
In children undergoing genetic testing for physical health concerns, we examined how often the results also revealed information about their risk for neurodevelopmental disorders. The study sample con...
Alport syndrome is an inherited disorder of the kidneys that results from variants in three collagen IV genes-COL4A3, COL4A4, and COL4A5. Early diagnosis and pharmacologic intervention can delay the p...
Genetic tests have become widely available. We sought to understand the use of genetic tests in the practice of frontline clinicians within the United States Department of Veterans Affairs (VA)....
We administered a web-based survey to clinicians at 20 VA facilities. Physicians, nurse practitioners, physician assistants, and pharmacists were eligible. We excluded genetics providers and clinician...
The response rate was 11.3% (1207/10,680) and of these, 909 respondents were eligible. Only 20.8% of the respondents reported feeling prepared to use genetic tests and 13.0% of the respondents were cu...
Most VA clinicians don't feel prepared to use genetic tests. Those with genetic testing experience are more likely to consult genetics providers. The demand for genetics providers should increase as f...
