Overall Curriculum

The course covers [1] understanding of DNA structure, human genome and application of various molecular techniques in current clinical molecular laboratory including PCR technique, Southern blot analysis, targeted mutation analysis, gene scanning, gene sequencing, SNP array analysis, next generation sequencing, identity testing; [2] developing preanalytic and postanalytic skills including interpretation of genetic test results, report writing and communication of result to clinicians.

Understanding [1] genetic basis of inborn errors of metabolism; [2] the acute presentation and initial management of inborn errors of metabolism; [3] the interpretation of abnormal screening test results; [4] how to apply the principles of effective communication in taking care of patients with or at-risk of specific genetic conditions.

Clinical genetics deals with direct clinical care of patients with genetic disease, including diagnosis, management and counselling as well as development of a genomic approach to human diseases in clinical setting which requires the application of all of the basic principles of medical genetics taught in this course.

The course covers the understanding of DNA and its architecture, cell division and the use of various techniques to examine these structures, including chromosome banding, FISH and aCGH. It also covers the application of these techniques for the detection of chromosomal abnormalities, developing pre-analytic and post-analytic skills in test results interpretation, report writing and communication of result to clinicians.

The course covers [1] risk assessment of a given genetic condition; [2] implications of population screening for carriers of disease causing genes; [3] gene mapping and identification of genes responsible for the predisposition to disease like cancers and autistic spectrum disorder; [4] interpretation of DNA matching for paternity testing or forensic purposes; [5] study of world-wide genetic variation among human populations.

The course introduces the basic concepts, methods and tools used in bioinformatics including bioinformatics databases, sequence alignment and phylogeny, protein structure prediction, protein-protein interaction, molecular dynamics and other essential data mining algorithms with the aim of helping students to use bioinformatics tools and data to answer biological questions and to solve clinical problems.

Genetic counselling is a communication process which involves [1] conveying medical facts including diagnosis, course of the disorder and available treatment; [2] understanding the pattern of inheritance and the risk of carrying the gene in specific relatives; [3] understanding the alternatives for dealing with the risk; [4] choosing an appropriate course of action by taking into account their risk, family goals, ethical and religious standard, and in accordance with their decision; [5] making the best possible adjustment to the disorder of the affected family member and/or the risk of recurrence of the disorder.

[1] Presentation and communication skills: This module will cover generation, transmission and reception of messages; conflict resolution and negotiation; defining objectives; modes of presentation and communication including prompts, ideas, memos, letters, resumes, proposals, tenders, posters, theses, research papers and grant applications; critical analysis, argument and opinion; plagiarism and citation; presentation skills including poster and oral presentations, public speaking, interview and phone interview; use of audio-visual aids.

[2] Laboratory safety: It covers biosafety levels; laboratory containment, design and facilities; laboratory equipment; fire and electrical safety; guidelines and code of practice; safety organization and surveillance; safety checklist, training programme and rules for supportive staff; disinfection, decontamination and disposal of bio-hazardous, chemical and radioactive waste.

[3] Laboratory management: It deals with the organization of core laboratory and reference laboratory, laboratory practice regulations, implementation and monitoring of laboratory safety, equipment evaluation, financial budgeting and controlling, tendering, stock taking, auditing, decision making, formulation of laboratory policies and standard operating procedure, laboratory accreditation, personnel management, handling conflicts in work environment.

The course covers prenatal dysmorphology and genetic syndromes. It will also cover the principles of prenatal screening and diagnosis with emphasis on screening for Down syndrome and other fetal aneuploidies.

The course covers the diagnosis, counseling and management of late onset genetic diseases, common hereditary cancers and cancer predisposition syndromes. It also includes the quantitative methods in cancer risk assessment, laboratory methods of cancer genetic testing, genetic testing in the management of patients with cancer, reproductive counseling for cancer patients and families.

The course teaches recognizable patterns of human malformation using a combined approach encompassing dysmorphology, formulation of diagnosis, advanced laboratory testing, management and therapy.

The course introduces the latest concepts, methods and tools used in genomic medicine. Special emphasis will be put on the application and interpretation of microarray and next-generation sequencing data.

The course deals with psychological, ethical and legal issues in prenatal genetic testing, genetic testing for presymptomatic individual, cancer genetic testing and reproductive genetic testing, and problem of confidentiality.

Research topics related to genomic and clinical genetics will be provided by the principal investigators from the Chinese University of Hong Kong, Baylor College of Medicine, Harvard Medical School and Peking Union Medical College. The research project will either be a laboratory-based or clinical data-based investigation. Students are required to write up the result in a dissertation.