The profession of genetic counselors

Clinical genetics is a sub specialty in medicine. To provide services in this field, a variety of professionals have to work as members of a team. In this piece I would like to describe the profession of genetic counselors - one member of the team.

From the perspective of clinical practice, genetic counselors perform a vital role in the interactions between the technical professionals and the patient. Effective practice of clinical genetics requires active participation of patients/family members. To enable this patients have to be educated on the basics of genetics, often when a child suspected of having a genetic disorder is being evaluated. In addition, making an accurate diagnosis requires obtaining essential information related to their family history – this can be a sensitive personal issue which can be time consuming and require good communication skills. Once a diagnosis has been made, information related to not only the clinical management of the disease has to be conveyed to the patient/family but also the inheritance pattern and recurrence risk has to be conveyed in a manner that avoids placing guilt on any individual. Often arriving at the diagnosis will require the coordination of activities involving multiple testing modalities, professionals and agencies and review of the literature. In the fast evolving field of clinical genetics, review of literature is also critical in providing the most effective service to patients.

Genetic counselors are professionals with an important role in all the above mentioned activities. To enable them to function effectively in the various tasks they are called upon to perform, they have to have to be knowledgeable in a variety of fields play an invaluable role in coordinating these activities. Therefore the profession of genetic counseling is ideally suited for those with not only an inquiring scientific mind but also good communication skills, organization capabilities and empathy for patients and the family.

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.