Abstracts

Precision Medicine Fellowship: Developing a Workforce Equipped for Epilepsy Treatment in the Genomic Era

Abstract number : 1.366
Submission category : 12. Genetics / 12A. Human Studies
Year : 2023
Submission ID : 425
Source : www.aesnet.org
Presentation date : 12/2/2023 12:00:00 AM
Published date :

Authors :
Presenting Author: Margarita Saenz, MD – University of Colorado Anschutz Medical Campus

Scott Demarest, MD – Associate Professor, Pediatrics, University of Colorado Anschutz Medical Campus Precision Medicine Institute of Childen's Hosptial Colorado

Rationale:
Ongoing rapid expansion of molecular interventions has limited number of trained medical professionals to administer.  Professionals need strong foundations in understanding genomic medicine as well as the ability to interpret technologically advancing methodologies in molecular, cytogenetic and biochemical genetics. Whilst educating subsequent generations, training programs need to stay abreast of clinical trial eligibility and experiential administration of genomic interventions. We purpose common minimum standards of competence should be considered in the frontier of precision medicine (PM).

Methods:
Reviewed current training programs geared toward clinician scientists, consulted program directors in Neurology and Genetics for input and didactic training opportunities, compared with American Board of Psychiatry and Neurology (ABPN) and American Board of Medical Genetics and Genomics (ABMGG) core competencies, reviewed medical literature on past and current educational practices of Precision Medicine, and subsequently developed a pilot fellowship geared toward epilepsy and NeuroGenetic PM.

Results:
A Precision Medicine curriculum was created with broad input into the future needs of the field. Training was designed to allow entry by either a trained neurologist or geneticist to complement prior training experience. Core competencies were identified including: Metabolic/Biochemical genetic testing, Chromosomal and SNP array technology, Gene panel testing (NGS vs Sanger), Whole exome and genome sequencing testing, Clinical trial architecture, Principles for getting nucleic acids into cells and using viruses to transfer DNA, Methodologies for successful RNAi and expression of non-coding RNAs, Intravenous, intrathecal and intraventricular enzyme replacement therapy, Anti-sense oligonucleotide therapy, Gene replacement therapy, and Use of genome editing tools.

A single trainee completed the following training goals in the core pathway: Graduate of the neurogenetic precision medicine program is diagnosing and managing patients with ability provide precision therapeutics to a range of genetic conditions. Trainee reports availability as research collaborator for clinical research and clinical trials.

Conclusions:
PM trainees require a cadre of new skill sets, we have tailored combined training programs for the stated goals of PM training. Core competencies as outlined can be achieved within a one-year certificate training program. However, the overall field may be best prepared for the future of genomic epilepsy care with multi-institutional consensus on training goals. Consideration should be given to establishing neurogenetics or precision medicine as a potential focused practice designation.

Funding:
Precision Medicine Fellowship was initially supported by International Foundation for CDKL5 Research in conjunction with a consortium of rare diseases advocacy groups. It is now supported by Children’s Hospital Colorado Precision Medicine Institute.

Genetics