I. ACADEMIC FOUNDATION FOR GENETIC COUNSELLING
In parallel with clinical training, it is understood that students will be engaged in course work to provide a solid foundation in:
A. Principles of human genetics:
Including Mendelian, multifactorial and nontraditional modes of inheritance, chromosomal abnormalities and their origins, biochemical and molecular genetics, segregation and linkage analysis in man, and factors governing the frequencies of genes in populations.
B. Practical applications of genetics in medicine, genetic screening, genetic counselling, prenatal diagnosis and case management.
C. Principles of effective counselling:
Including basic concepts of normal and abnormal psychology, normal human psychological development, interviewing and counselling principles and skills, crisis intervention, family dynamics and interventions, principles and techniques of assessment.
D. Principles of biochemistry, physiology and embryology, especially as they apply to human genetics.
E. Principles of epidemiology and biostatistics, and knowledge of the appropriate application of these principles to medical genetics.
F. Social, ethical, legal and cultural issues in medical practice in general and medical genetics in particular.
G. Health care delivery systems and issues of health and social policy.
II. SKILLS TO BE ACQUIRED DURING CLINICAL TRAINING IN GENETIC COUNSELLING
A. Communication skills
1. Ability to communicate information regarding genetic concepts, genetic diseases and the personal and medical consequences of genetic disease to individual clients (most of whom will have no scientific training), the general public and other health professionals.
2. Ability to obtain information from the patient/family both with respect to the medical situation that brought them to genetic counselling and with respect to their own primary concerns.
3. Ability to respond to those concerns with medical or genetic information, with psychological support, and where appropriate, with referral to social service agencies or other health professionals.
4. Ability to help the family understand, where appropriate, the normal psychological reactions to death of a child, loss of a pregnancy or coping with a family member with genetic disease and to provide the requisite support.
5. Ability to explain the alternatives available to each family, both with respect to medical management, life expectations and social services, and with respect to psychological adjustments.
6. Ability to convey information without infringing upon individual social, cultural or religious beliefs. This will in many cases require some discussion of the ethical ambiguities inherent in the provision of genetic services.
B. Assessment skills
1. Ability to identify the concerns of the patient/family (or community group) with respect to a specific genetic disease or genetic disorders in general (i.e., why is a genetic counsellor being consulted?).
2. Ability to assess the clients’ level of background knowledge, so that counselling and information may be focused appropriately.
3. Ability to identify families and clients whose levels of stress or distress require a professional psychological referral.
4. Ability to identify the most appropriate referrals for particular patients and families, both for medical and non-medical support.
5. Ability to identify situations in which particular ethical/legal issues are likely to arise, and to counsel/inform accordingly.
C. Technical skills/knowledge
During the course of clinical training, it is expected that the student will consolidate his/her knowledge of basic medical genetics so that it can be applied to individual patient problems. The student’s ability to do this will be demonstrated by: displaying basic knowledge of commonly occurring genetic disorders, conducting appropriate literature searches to learn about genetic disorders, and conveying this information to colleagues and patients in a concise and accurate fashion. The student should become knowledgeable about each of the following areas.
1. Medical terminology and the literature of human and medical genetics
3. Biochemical genetics
4. Molecular diagnosis and genomics
5. Dysmorphology, teratology, inherited congenital and adult-onset diseases, and other pertinent aspects of medical genetics
6. Population genetics, epidemiology and screening
7. Use of databases pertinent to the practice of medical genetics, dysmorphology, and teratology
8. Social and family support services available within the particular geographic area of practice
D. Administrative skills
1. Ability to obtain medical records and/or information as required.
2. Ability to communicate appropriately in writing with patients and colleagues.
3. Ability to maintain medical records in a format consistent with the standard practice of particular clinics.
4. Ability to organize and schedule clinic activities, including patient visits, diagnostic tests and follow-up.
5. Ability to organize and schedule community activities, such as screening clinics and high school teaching, when the opportunity presents itself.
6. Ability to refer families to the appropriate social service and/or support agencies.
III. TRAINING OBJECTIVES OF CORE ROTATIONS
A. MEDICAL GENETICS – PEDIATRIC AND ADULT
SUPERVISION: Laurence Baret, MA, MSc, Nancy Braverman, MD, Daniela Buhas, MD, Isabelle DeBie, MD, Daniela D’Agostino, MD, Stella Drury, MSc, Stephanie Fox, MSc, MS, Fahd Halal, MD, Laura Russell, MD, Guillaume Sillon, MSc, Yannis Trakadis, MD, Laura Whelton, MSc, others as appropriate
- Attendance, observation and participation in all of the regularly scheduled activities of the service, including clinics, inpatient consultations, clinic and triage meetings, ward rounds, and patient review.
- During the first year of training, student responsibilities begin with observation but students will be progressively assigned specific roles by the supervisor (eg. telephone intake, literature review and synthesis, pedigree, explanation of inheritance patterns, chart notes, letters, referrals, and arrangement of appointments). The process usually includes “active observation,” in which the student performs case preparation and follow up as if s/he were the counsellor. The student will move towards the roles required in intensive clinic training at the discretion of the supervisor.
- During intensive clinic training (second year), each student will be responsible for the work-up, counselling and follow up of at least two cases per week after the first week, for a goal of 14 cases for the rotation. With experience, students will progress from observation to full participation in and management of the counselling process. For each case, tasks will include:
a. Review of the medical records and relevant literature with the supervisor prior to the appointment;
b. Active participation in the counselling session;
c. Presentation of cases at clinic meetings, if applicable;
d. Assumption of responsibility for follow up and continuing communication in the form of chart notes, clinic letters to referring physicians and/or summary letters to patients, and telephone or clinic follow-up within the guidelines established by the clinic.
4. Overall Expectations:
a. All patient interactions are to be documented in department charts.
b. Even when the student has a mostly observational role in clinic, s/he will review the literature on the genetic aspects of the conditions involved.
c. Students are expected to take phone calls and be involved in the daily operation of the office as this introduces many aspects of patient interaction and results in ad hoc discussion about patient issues.
B. PRENATAL DIAGNOSIS
SUPERVISION: Isabelle DeBie, MD, PhD, Maria Lalous, MSc, Marilyn Richard, MSc, David Rosenblatt, MD, Laura Russell, MD, others as appropriate
1. Overall goals of training in the prenatal diagnosis clinic are:
a. To learn to explain all prenatal procedures and screening tests clearly, both at a very simple level and at a more sophisticated non-scientific level.
b. To understand the particular scientific and counselling issues relevant to prenatal diagnosis and, through exposure to a variety of prenatal case referrals, to develop the skill to apply that knowledge in dealing with a wide range of clients.
2. The rotation requires attendance, observation and participation in genetic counselling for ultrasound abnormalities, abnormal results of prenatal diagnosis or screening tests, and pregnancy risks related to teratogen exposure and family history of genetic disease.
3. Attendance at and participation in Fetal Diagnosis and Treatment Group meetings, fetal outcome meetings, ultrasound rounds and embryofetopathology meetings (if occurring during the rotation) are required.
4. Over the first and second year rotations, each student will:
a. Become knowledgeable about the various indications for prenatal diagnosis.
b. Review the literature concerning the advantages, risks and limitations of amniocentesis, chorionic villus sampling, cordocentesis, ultrasound screening, maternal serum screening, and new reproductive technologies.
c. Develop the ability to explain orally and in writing: prenatal diagnosis procedures (amniocentesis, CVS, cordocentesis), ultrasound and maternal serum screening, the strengths, limitations and consequences of these and of various other laboratory analyses. The student should develop the facility to explain these facts to individuals, families and community groups at several different levels of sophistication, depending on the needs of the client.
d. Discuss termination of pregnancy, including both medical and psychological implications.
e. Observe the performance of ultrasound, amniocentesis, chorionic villus sampling and cordocentesis procedures, if available.
f. Be involved in a target number of 4-6 cases per week, depending upon referral volume. It is not expected that students see every case referred to the Unit; the emphasis is on quality case preparation, counselling and management rather than on quantity of cases.
C. CANCER GENETICS
SUPERVISION: William Foulkes, MB, PhD, Lidia Kasprzak, MSc, Lynn Macrae, MSc, Laura Palma, MSc, Nora Wong, MS, Sonya Zaor, MSc, others as appropriate
SUPERVISION – CANCER GENETICS RESEARCH: Heidi Rothenmund, MS, Nassim Taherian, MSc, Nora Wong, MS, others as appropriate
1. The overall goals of the cancer genetics rotations are to:
a. Build on existing knowledge of the natural history, genetics, diagnosis, and management of the most common hereditary cancer/neoplasia syndromes.
b. Gain experience with cancer risk assessment and evaluation of family cancer histories, including review of pathology and medical records and pertinent scientific literature.
c. Develop psychosocial counselling skills as they relate to the hereditary cancer patient.
d. Function as a member of a multidisciplinary team including participation in triage and pre-clinic review meetings.
2. Specific goals for the cancer genetics rotation are to:
a. Learn about the genetics and etiology of hereditary cancer and neoplasia syndromes.
b. Learn how to take and evaluate a patient’s personal and family cancer history.
c. Learn to critically review medical/pathology records as part of the cancer risk assessment process.
d. Learn to assess eligibility for genetic testing and provide cancer risk assessment counselling for patients and their family members.
e. Understand and learn clinical recommendations for cancer screening.
f. Learn about the genetic testing process for a variety of hereditary cancer syndromes, including the role of ethnic-specific testing within certain founder populations.
g. Appreciate the psychosocial aspects of counselling patients with or at-risk for cancer, in both the adult and pediatric setting.
h. Improve written communication skills, including chart notes and patient/physician letter writing, for use in cancer genetic counselling.
a. On average, the student can expect to see 2-4 patients per week.
b. The student will be responsible for preparing, planning for, and counselling cases as appropriate, as well as organizing any necessary follow-up. Responsibilities and plans for counselling each case will be discussed in advance with the supervisor.
c. In general, the student will be expected to write chart notes after each session and, where appropriate, a letter to the referring MD and/or patient summarizing the session.
D. CLINICAL GENETICS – SHRINERS HOSPITAL
SUPERVISION: Frank Rauch, MD, others as appropriate
1. Become familiar with the different types of osteogenesis imperfecta (OI).
2. Become familiar with treatment modalities for increasing bone density in patients with OI.
3. Summarize a bone disorder case that was medically interesting or unusual and present it at clinic meeting.
E. SPECIALTY CLINICS
SUPERVISION: Each specialty clinic exposure is supervised by the staff physician, nurse or other health professional on site.
1. In the course of a student’s 2-year training, s/he is required to observe and actively participate in at least 8 of the following specialty clinics, to include in all cases Biochemical Genetics:
Biochemical Genetics (2 weeks)
Cleft Lip and Palate
Neurofibromatosis (both new patient and follow-up clinics)
2. Attendance at these is arranged by the student and ideally during the period dedicated to these clinics in the student’s schedule, but may occur throughout the two years of the Program. The student will be given a checklist of clinics, will write the date of attendance of each, and obtain the signature of the clinician staffing the clinic on the day of attendance. These checklists will be collected upon completion of the program by the Program Director as a requirement for graduation.
3. The student will gain an appreciation of the impact of the diagnoses seen as they pertain to the medical, psychosocial and family dimensions of illness. In particular, the student will appreciate the logistical considerations that must be accommodated by the patients and families facing multisystem disorders (eg the number and frequency of visits to the hospital, number of subspecialists following each patient, dietary and other treatment regimens, etc.)
4. After each clinic attended, the student will write a paragraph of his/her impressions and submit them to the Program Director.
The curriculum is described below. It is designed and intended to be flexible. In other words, the number and variety of courses taken by one trainee may differ from that of another in accord with their respective academic backgrounds.
|Clinical Genetics Laboratory Skills (HGEN 650)||3|
|Genetic Counselling Principles (HGEN 601)||3|
|Year I Genetic Counselling Practicum (HGEN 600 D1)||3|
|Year I Genetic Counselling Practicum (HGEN 600 D2)||3|
|Introductory Field Work Rotations (HGEN 620)||3|
|Introductory Field Work Rotations 2 (HGEN 621)||6|
|Principles of Medical Genetics (HGEN 617)||3|
|Second Year Practicum I (HGEN 640)||3|
|Second Year Practicum II (HGEN 641)||3|
|Genetic Counselling: Independent Studies 1 (HGEN 610 D1)||3|
|Genetic Counselling: Independent Studies 2 (HGEN 610 D2)||3|
|Advanced Field Work Rotations (HGEN 630 D1/D2)||12|
Students may also take one of the following electives in year I or II:
|Human Genetics Applied (BIOL 370)*||3|
|Topics in the Human Genome (BIOL 568)||3|
|Hereditary Cancer Syndromes (HGEN 690)||3|
|Host Response to Pathogens (HGEN 691)||3|
|Human Biochemical Genetics (BIOL 575)||3|
|Introduction to Epidemiology (EPIB 606)||3|
Psychiatric Genetics (HGEN 695)
Disability and Rehabilitation (SWRK 669)
Minimum credits required to graduate: 48
One 4 – 8 week clinical or research rotation at an external site over the summer with approval of the Program Director.