Electives in Anglophone Settings > Clinical and Metabolic Genetics

Clinical and Metabolic Genetics

The Ontario Ministry of Health and Long-Term Care designates the Genetics Program located at the Children’s Hospital of Eastern Ontario (CHEO) as one of several regional centers in the province for genetic assessment, diagnosis, counselling, and testing. The program offers clinical, biochemical, cytogenetic and molecular genetic diagnostic services to Eastern Ontario, and Western Quebec. It is also the site of the Ontario Newborn Screening Program and the site of the Maternal Serum Screening and Integrated Prenatal Screening programs for pregnant women in Eastern Ontario. The mandate of the Genetics Program is to provide clinical and laboratory services through all stages of life, including preconception, prenatal, pediatric, and adult. Therefore, the trainee will be exposed to patients of all ages.

The clinical service includes:

Counselling about options for prenatal diagnosis
Counselling related to the significance of prenatal ultrasound and prenatal screening findings
Counselling related to a family history of a genetic condition and the availability of carrier testing
Counselling related to a personal or family history of cancer such as those suggestive of familial breast/ovarian or familial colon cancer syndromes
The assessment and diagnosis of complex referrals related to syndromes, inborn errors of metabolism and congenital malformations.
The assessment and diagnosis of neurogenetic disorders

The laboratory service includes:

The Cytogenetics Laboratory, which provides chromosome analysis and FISH testing for Eastern Ontario
The Molecular Genetics Laboratory, which provides regional, national and international DNA diagnostic services for more than 20 identified genetic disorders
The Biochemical Genetics Laboratory which provides testing for the Genetic Metabolic Disease Program, the Maternal Serum Screening program and the Integrated Prenatal Screening program
The Ontario Newborn Screening Program, which provides screening for approximately 30 disorders to all babies born in the province.

Clinical and Metabolic Genetics Rotation

Objectives:

To learn the indications for a genetics referral.
To learn communication and counselling skills
To learn an approach to the patient with genetic/metabolic disease.
To learn a genetic framework for family history taking and pedigree drawing
To learn how to conduct a dysmorphology examination.

Description

The student will gain experience in clinical genetics, cancer genetics, dysmorphology, metabolic disease, newborn screening, prenatal screening and prenatal diagnosis, spending time with both physicians and genetic counselors. The student will learn how to obtain and record a detailed family history, perform a thorough dysmorphology examination and apply the principles learned during their didactic courses.

Please note: this elective should be requested as early as possible as there is high demand.

CONTACT: Dr. Julie Richer
LOCATION: Clinic Wc-2, 3 rd floor, Max Keeping Wing, CHEO
AVAILABLE FOR: 1^st and 2^nd year students 3^rd and 4^th year students
DURATION: 10 hours 2 weeks minimum (4 weeks preferred)
NO. OF STUDENTS: Variable (5-10/yr) 1 at a time

Summer research studentships may be available and should be discussed with potential mentors as early as possible.

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