Requirements for establishing a clinical cytogenetics laboratory.

Theoretical knowledge is only a very small part of the requirements for developing a state of the art clinical cytogenetics laboratory. As in every field, planning to ensure that adequate resources are available is essential for establishing and operating a clinical cytogenetics laboratory. Clinical cytogenetics is both a technology intensive as well as labor intensive discipline.
The technology requirements are; Laboratory space, laboratory infrastructure (workspace, furniture etc), equipment (initial cost of purchase and annual maintenance contracts), recurring cost of disposables (glassware, tissue culture media, other chemicals). Budgeting appropriately for the initial establishment as well as maintenance and operations is an essential first step in setting up a cytogenetics laboratory.
Personnel: Qualified laboratory Director (preferably a Ph.D. trained in clinical cytogenetics – cytogenetic involves more than merely identifying chromosomes), laboratory technologists (minimum of two technologists; the number of specimens that can be processed per week per technologist will depend on the type of specimen, experience of the technologists, organization of the workflow etc.), administrative assistant, genetic coordinator/genetic counselor
Quality assurance is an important component of any laboratory. Accuracy of the results will depend on quality control during the pre-analytic (quality of specimen received, who ordered the testing, why the test was ordered, availability of adequate unique information on the patient for identification, and how the specimen is entered in the laboratory system for identification of the specimen throughtout the processing), analytic (procedure/s involved in the analysis) and post-analytic (how the results are reported to the referring physician) stages of the analysis. Written protocols on how quality is monitored during each of these stages is a must. Processes for investigating and preventing recurrence of errors and issues related to quality have to be available. Maintaining rigorous quality assurance requires resources for self inspections and inspections by accrediting agencies
Genetic counselors for explaining the results to the patients and coordinating follow up actions should be available as part of the services offered by any clinical cytogenetics laboratory. The significance of the services offered by a cytogenetic laboratory is only as good as what the patient takes away from the results – be it normal or abnormal.

Impressions of Clinical Genetics in India

This blog on “Clinical Genetics in India” is an attempt to initiate discussion among individuals interested in developing the field of clinical genetics in India. Clinicians, basic scientists, policy makers, patient advocates, journalists and any individual interested in the field are welcome to join the discussion. The hope is that this discussion will help understand the current state of clinical genetics in India, the need for clinical genetics and diagnostic facilities in India, the need for training professionals in clinical genetics and limitations for developing the required resources.
Currently there are pockets in India where clinical genetic services are available for patients. Relative to the size of the population the extent of service available is inadequate. One limiting factor is the inadequate recognition among clinicians of the importance of genetics in the practice of medicine. As regards the non clinical component, there are many individuals trained in the use of various techniques. Unfortunately, there are few who are adequately trained in working up clinical cases. Training of clinicians as well as basic scientists is only two important aspects that require improvement. Training genetic counselors is also extremely important in developing the field of clinical genetics.