Genetic Counselor - Helbig Lab- Associated with the Epilepsy NeuroGeneticsInitiative (ENGIN)

LOC_ROBERTS-Roberts Ctr Pediatric Research Req ID: 82514

Shift: Days

Employment Status: Regular - Full Time 

Job Summary

The Helbig Lab, associated with the Epilepsy NeuroGenetics Initiative (ENGIN), is seeking a dynamic genetic counselor(new grads welcome) for a role that is research-based with an associated limited clinical effort, bridging the clinical and research genetic studies in the field of epilepsy within the Division of Neurology and Department of Biomedical and Health Informatics (DBHi).


The Epilepsy NeuroGenetics Initiative (ENGIN) within the Division of Neurology is a Frontier Program at Children’s Hospital of Philadelphia that integrates genomic medicine into the clinical care of children with epilepsy. This clinical-translational-research program provides exceptional clinical care to children with epilepsy and includes a translational research program to facilitate the development of new therapies. As a dedicated epilepsy genetics program, ENGIN coordinates all clinical and research expertise in epilepsy genetics at the Children’s Hospital of Philadelphia.


The research genetic counselor will join a clinical team of 9 attending neurologists and 4 genetic counselors specializing in neurogenetics. The genetic counselor will assume a role in coordinating research efforts in epilepsy genetics within the Division including study design, patient recruitment, study inclusion, novel gene discovery and gene curation within the ClinGen consortium, and will serve as the liaison for advocacy groups such as the Epilepsy Foundation.


Specific genetic epilepsies that the GC will be involved with are STXBP1-related disorders and SCN2A-related disorders. The genetic counselor is expected to represent the Division at national scientific and advocacy meetings, along with providing efforts consistent to the mission of the Children’s Hospital of Philadelphia in research, clinical, and education domains (detailed below). The role is primarily research focused. Clinical involvement is limited and focused on specific patient groups enrolled in ENGIN research studies. The clinical role is supported by a Genetic Counseling Assistant.


More information about the Epilepsy NeuroGenetics Initiative can be found on our website:

Job Responsibilities

The genetic counselor is expected to provide efforts consistent with the mission of the Children’s Hospital of Philadelphia in the following domains:


  • Will be involved in research activity related to patients with epilepsies and genetic neurodevelopmental disorders, including regulatory oversight, IRB documentation, and patient interaction/recruitment/consenting for research protocols involving specialized genomic platforms including exome/whole genome sequencing and exploitation of diagnostic and research results.
  • This position includes active participation within the Section of Genetic Counseling. Upon approval by clinical leadership within the GCs Division, this role is able to also engage in Incident-to Follow Up visits for established patients to the practice to assist with returning test results, updating medical and family histories, reviewing testing options, and evaluating familial recurrence risks.
  • The position will interact with the diagnostic departments such as the Division of Genomic Diagnostics to facilitate utilization of diagnostic results for research studies and serve as a point person for translating research findings into valid diagnostic findings.


  • The position is research-based with limited clinical involvement in the ENGIN clinic for consent, phenotyping and return-of-results for research patients.
  • Variant analysis and test interpretation using ExAC/gnomAD, ClinVar, HGMD, and other disease-specific databases
  • Reviews patient information, evaluates family history, conducts risk assessment, and recommends medical or genetic testing based on analysis. 
  • Provides crisis intervention and psychosocial counseling as necessary. 
  • Works directly with the Attending Physician assigned to the patient population.  


Job Responsibilities (Continued)


  • The position is expected to assist with education/mentorship within the Division, along with serving as a supervisor to Genetic Counseling graduate students during their clinical rotations. 
  • Continued educational support provided with opportunities to present at conferences related to the field of practice  
  • The position will require ongoing gene curation on candidate and established genes within the ClinGen consortium and the Epilepsiome effort of the Genetics Commission of the International League Against Epilepsy. The genetic counselor is expected to move into a leadership role in educational efforts for a professional and lay audience including patient organizations such as the Epilepsy Foundation and provide gene curation summaries for professional and lay audience in a written format.
  • Active participation in national groups coordinating the efforts of genetic counsellors in the field such as EpiGC is highly encouraged.



Required Licenses, Certifications, Registrations Pennsylvania (or state they are working in) Genetic Counselor Provisional License. Must obtain full PA license within one (1) year of placement into position.Required Education and Experience
  • Masters degree in Human Genetics and Genetic Counseling 
Technical Requirements
  • Demonstrated ability in counseling, skills, techniques and other related areas.
  • Subject to pressure related to emergency clinical problems.
  • Must have a high degree of flexibility of skills and hours.
  • Prior experience with clinical data or research data is prefferred.
Additional Technical Requirements


  • Coordinates divisional research activities in genetic epilepsies including study conceptualization, patient inclusion, data analysis, and publication of posters/ abstracts/ manuscripts
  • Recognized as a point-of-contact within a research setting for a specialized patient population.
  • Sought out to provide outreach and education in the area of gene curation.
  • Present cases at rounds, or other conferences.
  • Provides clinical education and mentorship to Genetic Counseling graduate students.
  • Administrative involvement with research protocols including assistance with IRB submissions, upkeep of the regulatory binder, subject consenting, and research staff training.
  • Strong cultural awareness and sensitivity for handling patients interested in international bioregistries and clinic.
  • Advanced skills in variant interpretation and basic bioinformatics skills, experience with database management programs such as RedCap.
  • Demonstrated ability in counseling, skills, techniques and other related areas.
  • Prior experience with clinical data or research data in the field of genetic epilepsies is preferred, but not expected.

All CHOP employees who work in a patient building or who provide patient care are required to receive an annual influenza vaccine unless they are granted a medical or religious exemption.

Children's Hospital of Philadelphia is committed to providing a safe and healthy environment for its patients, family members, visitors and employees. In an effort to achieve this goal, employment at Children's Hospital of Philadelphia, other than for positions with regularly scheduled hours in New Jersey, is contingent upon an attestation that the job applicant does not use tobacco products.

Children's Hospital of Philadelphia is an equal opportunity employer. We do not discriminate on the basis of race, color, gender, gender identity, sexual orientation, age, religion, national or ethnic origin, disability or protected veteran status.

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CHOP Careers Contact 

Talent Acquisition

2716 South Street, 6th Floor

Philadelphia, PA 19146 



Salary Range
$69,000.00 - 146,000.00
per Year
Salary range estimated by
Philadelphia, PA 19104, US