Medical Geneticist, Cleft Palate Craniofacial Program - BC Children’s Hospital & University of British Columbia

Medical Geneticist, Cleft Palate Craniofacial Program
BC Children’s Hospital / University of British Columbia
0.4–1.0 FTE (flexible/shared arrangements considered)
Vancouver, British Columbia

General Information

The Medical Geneticist, Cleft Palate Craniofacial Program (CPCP) will work with BC Children’s Hospital, in partnership with the University of British Columbia (UBC), within the provincial Cleft Palate Craniofacial Program. This program comprises an ACPA-accredited multidisciplinary team providing comprehensive care from prenatal diagnosis through transition to adult services.

This role offers a unique opportunity to be part of a provincial centre of excellence with strong academic and health system partnerships, and to help shape integrated developmental–genomic models of care for complex populations. The Medical Geneticist will contribute to quality improvement, research, and system innovation, and to advancing health equity, culturally safe care, and family-centred practice across BC.

The Medical Geneticist will work in close partnership within a high-functioning multidisciplinary team, including specialists in plastic surgery, otolaryngology (ENT), dentistry/orthodontics, audiology, speech-language pathology (SLP), psychology, nursing, and social work. Together with the CPCP Developmental Pediatrician, they will support a comprehensive, longitudinal model of care that integrates precision diagnosis (genomic and etiologic assessment); developmental and functional assessment across the lifespan; equity-informed, family-centred care pathways; and seamless coordination across hospital, community, education, and adult systems.

Specific Accountabilities

The Medical Geneticist role includes triage, clinical care, and consultation regarding referrals across all clinical settings within the PHSA Cleft Palate Craniofacial Program. The subspecialist provides expert genetic assessment, diagnosis, and longitudinal shared-care management for infants, children, and youth with orofacial clefts and other craniofacial conditions, from the prenatal period through transition and transfer to adult care.

This includes the evaluation and management of both isolated and syndromic conditions, including those associated with multiple congenital anomalies, neurodevelopmental differences, and neurodevelopmental disorders (NDDs).

The role advances precision medicine approaches through the integration of detailed phenotyping, family history, and genomic technologies to support timely and accurate diagnosis, individualized care planning, family planning and reproductive counselling, recurrence risk assessment, and coordination with primary care providers and community-based supports.

The Medical Geneticist contributes to the development, implementation, and continuous refinement of structured diagnostic pathways, including phenotype-driven and genotype-informed approaches, to promote equitable, efficient, and evidence-informed care across the continuum of care.

The role is co-located and embedded within a collaborative multidisciplinary team and includes close partnership with developmental pediatrics, genetic counselling, plastic surgery, otolaryngology, speech-language pathology, audiology, orthodontics, psychology, social work, nurse practitioners, nursing care coordination, and other relevant specialty services as needed.

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Conduct comprehensive genetic and dysmorphology assessments, including prenatal and postnatal evaluation and counselling for recurrence and risk reduction
Facilitate appropriate use of genomic investigations (e.g., microarray, exome/genome sequencing)
Lead and or contribute to the development and evaluation of evolving international best practice precision medicine diagnostic algorithms, incorporating:

o Phenotype-driven risk stratification
o Tiered genetic testing strategies
o Integration of prenatal and postnatal diagnostics

Co-develop integrated clinical pathways and standards of care aligned with leading national and international centres
Support care coordination across programs, including BC Women’s Hospital, the Provincial Medical Genetics Program, Fetal Diagnostic Service, and the program Developmental Pediatric and Mental Health services including transition to provincial adult tertiary centres of care e.g. UBC, SPH, and VGH.
Provide education and mentorship to trainees, genetic counsellors, and interdisciplinary team members
Promote family-centred, culturally safe, and trauma-informed care, supporting patient and family centred care, advocacy, and community engagement

Interdisciplinary Care and Communication

Work within a multidisciplinary team including developmental pediatrics, plastic surgery, ENT, dentistry/orthodontics, audiology, Speech-Language Pathology (SLP), genetics, psychology, nursing, and social work.
Integrate interdisciplinary assessments into coordinated, longitudinal care plans.
Communicate concurrent complex developmental and genetic information clearly to children youth and families and emancipated youth transitioning to adult health care
Produce high-quality clinical reports as part of a multidisciplinary team supporting care, including patient and family education on recurrence risk and family planning and transition supports, and access to patient self-advocacy groups.
Engage in youth- and family-centred shared decision-making.

Health Advocacy and Systems Navigation

Co-develop individualized, culturally safe, trauma-informed, and function-based care plans to facilitate access to community services
Align recommendations with evolving BC funding frameworks, facilitating equitable access based on functional health and developmental needs and equitable access to precision medicine diagnostics.

Program and System Contribution

Contribute to program development, quality improvement, and innovation within provincial and ACPA-aligned cleft and craniofacial care systems and AboutFace Canada patient and family voices.
Support coordinated care pathways, including referrals to additional provincial Medical Genetics services, Sunny Hill, CDBC, BCAAN, and neuromotor services.
Participate in teaching, mentorship, and academic activities within UBC and BCCH

Qualifications

This position requires a Medical Doctor degree with current licensure or eligibility for licensure with the College of Physicians and Surgeons of British Columbia and Royal College certification in Medical Genetics
Eligibility for licensure in British Columbia

The successful candidate will receive a UBC academic appointment (rank commensurate with experience) and contribute to clinical care, teaching, and scholarly activities. Experience in academic engagement in teaching, quality improvement, and/or research is desirable, along with experience in multidisciplinary, team-based care. If candidates are also interested in joint appointments across clinical specialties, please note this in your application as joint appointments may be considered.

Candidates will require demonstrated expertise in leading genetic and dysmorphology assessment of syndromic and non-syndromic craniofacial conditions; advancing precision medicine approaches, including genomic diagnostics and structured diagnostic algorithms; and in recurrence risk, counselling, and integration of genomic findings into care pathways. Specialized areas of knowledge: developmental and etiologic evaluation of orofacial cleft abd craniofacial populations, including chromosomal and copy number variants (e.g., 22q11.2 deletion); single-gene conditions (e.g., Stickler syndrome, IRF6-related conditions); craniosynostosis pathways (e.g., FGFR) and other syndromic conditions (e.g., Treacher Collins); and teratogen exposure assessment (e.g., FASD, medications, maternal illness).

The successful candidate will also demonstrate a commitment to beginning and continuing their personal learning journey related to Indigenous-specific racism and dismantling systems of oppression, as well as addressing racism more broadly. They will demonstrate a willingness to articulate and share their learning experiences to contribute to a culture of motivation and inspiration among peers.

As a strong asset for consideration, we are looking for our successful candidate to have: Foundational knowledge of the social, economic, and political realities of settler-colonialism and its impacts on Indigenous peoples and equity-deserving groups within social and health contexts. Demostrated understanding of the impact of social determinants of health on health outcomes and a commitment to learning about and upholding legislative obligations and provincial commitments outlined in foundational documents such as the Truth & Reconciliation Commission’s Calls to Action (2015), In Plain Sight (2020), BC's Declaration on the Rights of Indigenous Peoples Act (2019), United Nations Declaration on the Rights of Indigenous Peoples (UNDRIP), Reclaiming Power and Place: Missing and Murdered Indigenous Women & Girls Calls for Justice (2019), the Declaration Act Action Plan, Remembering Keegan: A First Nations Case Study, the BC Human Rights Code, Anti-Racism Data Act, and the Distinctions Based Approach.

Contact

Applications, accompanied by a cover letter, detailed curriculum vitae, and the name, title, rank and contact information of four references, should be directed to:

Kevin P.W. Wang
Advisor, Talent Acquisition – Physician Recruitment
Email: [email protected]

What we do

BC Children's Hospital (BCCH) is an academic health science center dedicated to the care of children, youth and their families and is affiliated with the Faculty of Medicine at The University of British Columbia (UBC). In 2023, it was ranked fifth in the World’s Best Specialized Hospitals. UBC is Canada’s third largest university and consistently ranks among the 40 best universities in the world. Primarily situated in Vancouver, UBC is a research-intensive university and has an economic impact of $4 billion to the provincial economy.

BCCH is a program of the Provincial Health Services Authority (PHSA) which plans, manages and evaluates specialized health services with the BC health authorities to provide equitable and cost-effective health care for people throughout the province. Our values reflect our commitment to excellence and include Respect people – Be compassionate – Dare to innovate – Create equity – Be courageous.

The BC Children’s Hospital Research Institute (BCCHR) is a partnership of UBC and PHSA whose programs include BC Children’s Hospital, Sunny Hill Health Centre for Children and the BC Women’s Hospital and Health Centre. The BCCHR is dedicated to high quality research spanning a wide range of concerns relevant to children’s and family health.

Learn more about PHSA and our programs: jobs.phsa.ca/programs-and-services

PHSA, BCCH, BCCHR and UBC are committed to anti-racism and equity in our hiring and employment practices. With learning and compassion, we are addressing existing inequities and barriers throughout our systems. PHSA is seeking to create a diverse workforce and to establish an inclusive and culturally safe environment. We invite applications and enquiries from all people, particularly those belonging to the historically, systemically, and/or persistently excluded groups identified under the B.C. Human Rights Code.

One of PHSA’s North Star priorities is to eradicate Indigenous-specific racism, which includes ongoing commitments to Indigenous recruitment and employee experience as well as dismantling barriers to health care employment at every level. We welcome Indigenous individuals to apply and/or contact the Sanya’k̓ula Team (Indigenous Recruitment & Employee Experience) for support at [email protected].

Indigenous-specific anti-racism initiatives are rooted in addressing the unique forms of discrimination, historical and ongoing injustices, and exclusion faced by Indigenous peoples. These initiatives align with an Indigenous rights-based approach, recognizing the inherent rights and title of BC First Nations and self-determination of all First Nations, Inuit and Métis communities. PHSA is mandated to uphold legislative obligations and provincial commitments found in the foundational documents including the Truth & Reconciliation Commission’s Calls to Action (2015), In Plain Sight (2020), BC's Declaration on the Rights of Indigenous Peoples Act (2019), United Nations Declaration on the Rights of Indigenous Peoples (UNDRIP), Reclaiming Power and Place Missing and Murdered Indigenous Women & Girls Calls for Justice (2019), the Declaration Act Action Plan and Remembering Keegan: A First Nations Case Study.