Genetic Counsellor

Job Summary

Provides genetic counselling, including pre-and post-test genetic counselling, education, and support, as well as counselling to ensure informed consent to participants in several clinical research projects using genomic sequencing technology in Medical Genetics.

Genetic Counselling is an important component of the diagnostic process. The current standard of clinical care is comprehensive non-directive genetic counselling prior to and following genetic testing. Appropriate genetic counselling and education will facilitate the families understanding of the genetic risk factors, their child s condition and the details of the genomic testing they will be undertaking. Thus, each family will meet with the study’s genetic counsellor to discuss important issues and considerations regarding the genetic testing process, the possible results they may receive and the implications of receiving results. This will ensure that the consent for research is truly informed. Post-test genetic counselling is helpful in the family s understanding and adaption to the information that they have been given. In some situations, the genetic counsellors also help families find patient-oriented support groups or connect families who want to meet someone else with the same condition.

Liaises with referring clinicians such as pediatric neurologists, geneticists and other health professionals at BC Children s Hospital for the purpose of providing genetic counselling to the families of the study participants.

Organizational Status
This position is within the Friedman Lab, Department of Medical Genetics, at BC Children s Hospital. The position is under the direction of Dr. Friedman, and will work most closely with research coordinators, other research genetic counsellors, bioinformaticians and students. The individual will ultimately report to the principal investigators, Dr. Friedman, Dr. Rajan Babu and others.

Work Performed

The position's purpose is to support and take a leadership role in some of the ongoing clinical genomic projects. Below are the core responsibilities of the position.

Provides genetic counselling to research participants in the studies by performing duties such as:

• Effectively engaging with families to establish and maintain rapport, explain the study protocol, and obtain consent
• Providing pre- and post-test genetic counselling including participating in the disclosure of results sessions with the clinicians.
• Helping families adapt to the GWS findings including identifying patient-oriented support groups when necessary
• Working with the research team to review outcomes related to genomic testing.
• Maintaining up-to-date documentation for all study-based interactions.

Provides presentations and in-services on medical genetics topics, as well as updates on the progress and findings of research studies to the Friedman Lab, or other teams as requested.

Provides educational presentations to public and professional groups, as well as lectures to students in the areas of genetic counselling and genomic testing.

Is involved in writing grant proposals to fund new and on-going research studies. Collaborates with members of the research team to develop, devise, and conduct clinical research. This may include submitting proposals and amendments to the research ethics board, analyzing data, summarizing results, and disseminating findings in oral or written format. Contributes to the design, review, data input, maintenance, and evaluation of the QI/QA database.

Conducts semi-structured interviews and focus groups of study participants and healthcare professionals.

Participates in the analysis of quantitative and qualitative data from genetic counselling research studies.

Is involved in the planning, development and evaluation of programs and services related to the studies.

Disseminates research findings though writing manuscripts, and presenting to professional and academic audiences.

Participates in laboratory, clinical, and research meetings and conferences.

Maintains knowledge of current developments in Genomics and Genetic Counselling through methods such as reviewing relevant literature, consulting with other professionals, attending relevant education programs.

Performs other related duties as assigned.

Consequence of Error/Judgement

This position is key to the ethical and effective recruitment of study participants and the management of the research project. Errors in judgement may lead to inappropriate recruitment, participant drop out, lack of trust between participants and study personnel, inaccurate data collection and analysis. This could ultimately lead to incomplete or inaccurate findings, and failure of the project.

Supervision Received

In general, this position works in close consultation with other research personnel including Lab Head Dr. Jan Friedman and Bioinformatician Dr. Rajan Babu. This position is required to be self-sufficient, and accountable, with the ability to use in-depth knowledge and experience in genetic counselling and research.

Supervision Given
The position will involve supervising undergraduate and medical students involved in the research studies

Minimum Qualifications
Master’s degree in Medical Genetics or Genetic Counselling and one year of internship in medical genetics, or the equivalent in training and experience. Board eligible for certification under the Canadian Association of Genetic Counselling or American Board of Genetic Counselling.

- Willingness to respect diverse perspectives, including perspectives in conflict with one’s own

- Demonstrates a commitment to enhancing one’s own awareness, knowledge, and skills related to equity, diversity, and inclusion

Preferred Qualifications

• Demonstrates knowledge and clinical experience with families undergoing genome-wide sequencing approaches
• Demonstrates sound clinical judgment in interaction with patients, clinicians and staff
• Demonstrates knowledge and experience with both quantitative and qualitative research methodologies.
• Demonstrates ability to communicate effectively with families and colleagues
• Demonstrates ability to work independently and co-operatively as part of an interdisciplinary team.