What is Biochemical Genetics?
Genetic disorders have become a focal point in laboratory medicine. Approximately one thousand inborn errors of metabolism (IEM) have been identified to date primarily through the detection of endogenous metabolites abnormally accumulated in biological fluids and tissues. The laboratory discipline that covers the biochemical diagnosis of IEM is Biochemical Genetics, and is defined as one concerned with the evaluation and diagnosis of patients and families with inherited metabolic disease, monitoring of treatment, and distinguishing heterozygous carriers from non-carriers by metabolite and enzymatic analysis of physiological fluids and tissues.
What is certification in Biochemical Genetics?
A Biochemical Geneticist is a science or medical graduate who has undergone an approved training programme and has been assessed by the HGSA Biochemical Genetics Board of Censors as having reached a satisfactory standard in knowledge and understanding of laboratory biochemical procedures, interpretation of results, diagnosis, reporting and management.
With this training, a Biochemical Geneticist will be able to function as a member of a team involved with the diagnosis, counselling, and management of patients and families with genetic or biochemical disease. It would be expected that a Biochemical Geneticist would participate in most laboratory functions, including diagnostic testing, results interpretation, research, laboratory administration and management and other professional activities related to human genetics.
How do I become certified?
Certification Guidelines in Biochemical Genetics
The Biochemical Genetics Board of Censors
| Chair | Dr Michael Feitz |
| Dr Caroline Ellaway | |
| Dr Barry Lewis | |
| Dr James Pitt | |
| Dr Heidi Peters | |
| Dr Veronica Wiley | |
| Dr Callum Wilson |
