MEDICAL GENETICS

 

DEFINITION:Medical Genetics is that branch of medicine concerned with the effect of genetic variation on human development and health and also with the study, diagnosis, management, and prevention of disease in individuals, families and communities.

GENERAL OBJECTIVES:The practice of clinical genetics is based on an in depth knowledge of basic genetic principles, a broad range of knowledge of genetic disease as it affects all body systems and individuals of all ages, and a clear understanding of the principles of genetic counselling.

On completion of the educational program, the graduate physician will be competent to function as a consultant in Medical Genetics. The resident must also demonstrate the knowledge, skills and attitudes relating to gender, culture and ethnicity pertinent to Medical Genetics. In addition, all residents must demonstrate an ability to incorporate gender, cultural and ethnic perspectives in research methodology, data presentation and analysis. This requires the physician to:

  • Perform a complete evaluation of physiological and pathological states relevant to the specific expertise of human medical genetics, including prenatal diagnosis, teratology, chromosomal abnormalities, disorders of morphogenesis, inborn errors of metabolism, and monogenic and complex genetic disorders;
  • Provide scientifically based, comprehensive and effective diagnosis and management for patients;
  • Provide effective genetic counselling for patients and their families;
  • Advise the public and health care colleagues on public health aspects of genetics;
  • Communicate effectively with medical colleagues, including referring physicians, and other health care professionals;
  • Maintain complete and accurate medical records;
  • Effectively coordinate or participate in the work of the health care team;
  • Be an effective teacher of other physicians (including medical students and residents), other health care personnel, patients, and general public;
  • Demonstrate personal and professional attitudes consistent with a consultant physician role;
  • Understand the principles and application of practice management and continuing management improvement;
  • Be willing and able to appraise accurately his or her own professional performance;
  • Be willing and able to keep her or his practice current through various modes of continuing medical education;
  • Be able to critically assess the genetics literature;
  • Be able to participate in clinical or basic science studies as a member of a research team;
  • Understand and apply legal, ethical, and psychosocial dimensions of medical genetics; and demonstrate the knowledge, skills and attitudes relating to gender, culture and ethnicity pertinent to medical genetics.

The detailed objectives describe minimal standards and in no way exclude the necessity for mastery of additional knowledge, skills or attitudes necessary for the most effective management of patients with genetic disorders.

It is understood that residents successfully completing a Medical Genetics residency program are regarded as fully competent, undifferentiated consultants in the specialty. The resident will be prepared to pursue further training in a variety of subdisciplines of the specialty, including diagnostic laboratory management relevant to medical genetics.

SPECIFIC OBJECTIVES:At the completion of training, the resident will have acquired the following competencies and will function effectively as:

Medical Expert/Clinical Decision-Maker

General Requirements

    • Demonstrate diagnostic and therapeutic skills for ethical and effective patient care.
    • Access and apply relevant information to clinical practice.
    • Demonstrate effective consultation services with respect to patient care, education and legal opinions.

Specific Requirements

1.Knowledge
The resident must be able to describe and discuss:

    • Normal and abnormal gene structure and function;
    • Normal and abnormal cell division;
    • Chromosome structure, morphology and nomenclature, including the principles and application of the various cytogenetic techniques;
    • Principles and application of somatic cell genetics;
    • Principles and application of molecular genetic techniques;
    • Basic principles of biochemistry and principles and application of laboratory investigation relevant to inborn errors of metabolism;
    • Monogenic and complex inheritance;
    • Developmental biology as it relates to normal and abnormal human morphogenesis;
    • Principles of epidemiology, including biostatistics, genetic epidemiology, and population genetics.

2. Clinical Knowledge
The resident will be able to describe and discuss:

    • Indications, limitations and risks of techniques of fetal assessment and options for reproductive intervention;
    • Genetic and non-genetic (intrinsic and extrinsic) factors predisposing to fetal loss, infertility, and abnormalities of morphogenesis;
    • Teratogenic agents and their effects;
    • Phenotypic variation and specific methods of assessment;
    • Methods of syndrome identification and diagnosis, including the use of computer diagnostic aids;
    • Etiology, diagnosis, management, natural history, and prognosis of well-defined genetic syndromes and diseases;
    • Indicators of normal and abnormal psychomotor development;
    • The use and limitations of commonly used instruments for the assessment of behaviour and intelligence;
    • Characteristic behavioural phenotypes of well-defined genetic syndromes and disorders;
    • Community services and resources available to help patients and their families;
    • Genetic screening and genetic testing;
    • Federal and provincial laws related to genetic diseases, reproductive options and technology;
    • Federal and provincial laws related to confidentiality, autonomy, disclosure, privacy, and issues of competence; and
    • The distinction between genetic testing for the diagnosis of disease and predictive testing to assess risk for predisposition to monogenic or complex genetic diseases as well as their applications and limitations.

3. Clinical Skills
The resident must demonstrate the ability to:

    • Elicit a comprehensive medical history and an appropriate family history, and to construct and interpret a standardized pedigree;
    • Carry out a comprehensive physical examination with special expertise in phenotypic variation;
    • Formulate an appropriate differential diagnosis, and plan an appropriate course of investigation with respect to genetic disease;
    • Perform special expertise in syndrome identification, including the use of diagnostic aids (e.g. computer assisted diagnosis);
    • Recognize, describe, and interpret laboratory and imaging findings relevant to genetic disease with special expertise in cytogenetics, molecular genetics and biochemical genetics;
    • Synthesize these clinical, laboratory, and imaging data to achieve or validate a diagnosis;
    • Plan and coordinate the care of individuals affected with genetic conditions; and
    • Provide continuity in care and to periodically assess the appropriateness of the care plan.

Communicator

General Requirements

    • Establish therapeutic relationships with patients and families.
    • Obtain and synthesize relevant history from patients and families and their communities.
    • Listen effectively.
    • Discuss appropriate information with patients and families and the health care team.

Specific Requirements
The resident will demonstrate the ability to:

    • Provide genetic counselling: displaying empathy and compassion, especially in delivering bad news, remaining objective and impartial, remaining appropriately non-directive, but being prepared to advise in certain situations and to provide psychological support either personally or through referral employing active listening skills, delivering information to the patient and family in a manner that is understandable, encouraging discussion, and promoting patient and family participation in decision-making.
    • Gather information not only about the disease but also about the patient's beliefs, concerns and expectations about the disorder, while considering the influence of factors such as the patient's age, gender, ethnic, cultural, and socioeconomic background, and spiritual values;
    • Recognize one's own biases, including ethno-cultural differences, and their impact on communication and patient care;
    • Understand how cultural background, age, gender, socioeconomic background and spiritual values influence communication;
    • Use, appropriately, non-verbal communication;
    • Communicate, at a level appropriate to the consultant or the referring physician, information concerning the medical implications and prognosis, the risks that apply, and the options available;
    • Help the individual and family choose an appropriate course of action for themselves;
    • Advise them regarding support agencies; and
    • Summarize findings, consultation notes and counselling, for referring physicians, agencies and families.

Collaborator

General Requirements

    • Consult effectively with other physicians and health care professionals.
    • Contribute effectively to other interdisciplinary team activities.

Specific Requirements
The resident will:

    • Demonstrate understanding of the roles of clinicians and research scientists cooperatively to advance knowledge of human genetics in genetics research endeavours.
    • Describe how health care governance influences patient care, research and educational activities at a local, provincial, regional, and national level.
    • Participate in an interdisciplinary team meeting, and demonstrate the ability to accept, consider and respect the opinions of other team members, while contributing medical genetics-specific expertise him/herself.
    • Communicate effectively with the members of an interdisciplinary team in the resolution of conflicts, provision of feedback, and where appropriate, be able to assume a leadership role.

Manager

General Requirements

    • Utilize resources effectively to balance patient care, learning needs, and outside activities.
    • Allocate finite health care resources wisely.
    • Work effectively and efficiently in a health care organization.
    • Utilize information technology to optimize patient care, life-long learning and other activities.

Specific Requirements
The resident will:

    • Demonstrate understanding of the importance of quality assurance as it relates to clinical care, laboratory data, and education.
    • Demonstrate the ability to balance personal and professional demands on activities of daily living.
    • Demonstrate understanding of issues involving potential litigation.
    • Demonstrate understanding of the following professional skills in time management: recognition that the effective use of time depends on punctuality, requires planning, depends on development of speed as well as accuracy in clinical skills, on reservation of time for reading and keeping current with the genetics literature and on the establishment of routines for carrying out regular activities and adhere to them.
    • Demonstrate commitment to the maintenance of complete and accurate medical records.
    • Demonstrate knowledge of how to identify employment policies and procedures.
    • Demonstrate the ability to effectively coordinate the work of the health care team.
    • Demonstrate knowledge of planning, evaluation, and assessment of outcome of a health care program.

Health Advocate

General Requirements

    • Identify the important determinants of health affecting patients.
    • Contribute effectively to improved health of patients and communities.
    • Recognize and respond to those issues where advocacy is appropriate.

Specific Requirements
The resident will:

    • Demonstrate an awareness of, and a willingness to refer patients to, community and national resources.
    • Demonstrate understanding of the roles of national and international agencies in the promotion of genetic health and the prevention, detection, and treatment of genetic disorders.
    • Demonstrate understanding of the importance of participating actively in public policy discussions and decision-making regarding the application of new genetic technologies.

Scholar

General Requirements

    • Develop, implement and monitor a personal continuing education strategy.
    • Critically appraise sources of medical information.
    • Facilitate learning of patients, housestaff/students and other health professionals.
    • Contribute to development of new knowledge.

Specific Requirements
The resident will:

    • Demonstrate commitment to continuing professional development; and participation in clinical or basic science studies as a member of a research team.
    • Demonstrate the ability to critically assess the genetics literature as it relates to patient diagnosis, investigation, and management.
    • Demonstrate the willingness and ability to enhance and apply teaching skills in the education of colleagues, residents, and other health care professionals.
    • Demonstrate the ability to pose a research question, and to conduct a research project and defend and disseminate the results of the research.

Professional

General Requirements

    • Deliver highest quality care with integrity, honesty and compassion.
    • Exhibit appropriate personal and interpersonal professional behaviours.
    • Practise medicine ethically consistent with obligations of a physician.

Specific Requirements
The resident will:

    • Demonstrate understanding of the importance of confidentiality and the difficulties it poses in the rare instances where relatives are at risk for a serious and potentially preventable disease.
    • Demonstrate the ability to recognize the limitations of their skills and expertise and seek consultation whenever indicated.
    • Demonstrate the willingness and ability to appraise accurately their own professional performance.
    • Display personal and professional attitudes consistent with a consulting physician role by: periodically reviewing their own personal and professional performance against national standards set for the specialty, showing willingness to include the patient in discussions concerning appropriate diagnostic and management procedures, showing appropriate respect for the opinions of fellow consultants and referring physicians in the management of patient problems and being willing to provide means whereby differences of opinion can be discussed and resolved.
    • Demonstrate the ability to recognize and respond appropriately to abuse, gender bias, discrimination, intimidation, and disrespect.
    • Demonstrate the knowledge of how to sustain career satisfaction.

 

CONTENT AND ORGANIZATION OF THE RESIDENCY PROGRAM:

There must be an organized program of rotations and other educational experiences, both mandatory and elective, designed to provide each resident with the opportunity to fulfill the educational requirements and achieve competence in the specialty.

The content and organization of each accredited program in medical genetics must be consistent with the specialty training requirements.

Residents must be provided with increasing individual professional responsibility, under appropriate supervision, according to their level of training, ability and experience in the management of medical genetics patients.

During the period of clinical medical genetics residency, the program must ensure continuing longitudinal exposure to a variety of patients with genetic and metabolic diseases.

In addition to offering the components noted in the specialty training requirements all accredited programs in medical genetics should offer community-based learning experiences.

RESOURCES:There must be sufficient resources including teaching faculty, the number and variety of patients, physical and technical resources, as well as the supporting facilities and services necessary to provide the opportunity for all residents in the program to achieve the educational objectives and receive full training as defined by the specialty training requirements in medical genetics.

In those cases where a university has sufficient resources to provide most of the training in medical genetics but lacks one or more essential elements, the program may still be accredited provided that formal arrangements have been made to send residents to another accredited residency program for periods of appropriate prescribed training.

Learning environments must include experiences that facilitate the acquisition of knowledge, skills, and attitudes relating to aspects of age, gender, culture, and ethnicity appropriate to medical genetics.

  1. Teaching Faculty

There must be a sufficient number of qualified teaching staff to supervise residents and provide teaching in the basic and clinical sciences related to the specialty. The teaching staff should have a nucleus of full time teachers. The program director must be a medical graduate with acceptable qualifications in medical genetics, and must have a university appointment.

  1. Laboratory Faculty

The individual responsible for the laboratory instruction and supervision of residents must hold qualifications, acceptable to the Royal College. The director of the laboratory must have a university appointment.

  1. Number and Variety of Patients

There must be an active teaching service in high-risk obstetrics. There must be definite mechanisms within the faculty to ensure that training provided in internal medicine, pediatrics and high risk obstetrics meets the specific needs and program requirements for residents in medical genetics.

  1. Clinical Services Specific to Medical Genetics
    1. In-Patient/Ambulatory

In order to provide a learning experience in following the natural history and longitudinal management of certain genetic disorders, residents should have the opportunity to follow a certain number of patients, both in and outside the hospital throughout their evaluation, treatment and care.

    1. Laboratory

The program must provide adequate diagnostic laboratory experience in:

      • cytogenetics
      • molecular genetics
      • biochemical genetics

When this experience cannot be provided through the volume and variety of the caseload, it may be supplemented by a teaching bank structured for that purpose or short periods of study outside the program.

    1. Consultation

The program must provide residents with the opportunity to obtain experience in the provision of a consultation service in medical genetics to primary care physicians and other specialists.

    1. Community Learning Experiences

Community experiences, which provide a learning environment with appropriate supervision and evaluation based on rotation specific objectives, should be available. This assumes administrative support and linkages with the program.

ACADEMIC AND SCHOLARLY ASPECTS OF THE PROGRAM:

The academic and scholarly aspects of the program must be commensurate with the concept of a university postgraduate education. The quality of scholarship in the program will in part, be demonstrated by a spirit of enquiry during clinical discussions, rounds, and conferences. Scholarship implies an in-depth understanding of basic mechanisms of normal and abnormal states and the application of current knowledge to practice.

  • Organized Scholarly Activities

The university must provide courses in cell biology/molecular genetics, cytogenetics, human genetics and genetic epidemiology/population genetics. In circumstances where such courses are not available in the university, arrangements should be made for a program of a similar type and rigour from other institutions, or through a specific course, tailored for the program, of the same rigour and depth as would be expected of a formal university course.

Organized scholarly activities such as rounds, journal clubs, research conferences and seminars must be a regular part of the program.

  • Communication Skills

The program must ensure that residents learn effective communication skills for interacting with patients and their families, colleagues, co-workers from other disciplines and students. Clearly defined educational objectives for teaching these skills and mechanisms of formal assessment should be in place.

Resources must be available outside of the actual genetics unit to provide the equivalent of a one-month practicum in counselling and communication skills.

SPECIALTY REQUIREMENTS:

Approved residency training which include:

1.Basic clinical training

2.Training in medical genetics

PROGRAMS (WITH TRAINING REQUIREMENTS):

Doctor of Medicine(M.D):

Eighteen months of approved training.

Master of Philosophy(M.Phil Medical Genetics):

Thirty six months of approved training.

Doctor of Philosophy(Ph.D):

Forty eight months(four years)of approved training.