Access to information and the capability of follow through in clinical genetics

The access of knowledge but inability to follow through – an important issue to be addressed when developing clinical genetic services in a developing nation.

Technological globalization with satellite television and internet has helped citizens in developing nations to gain access to information effortlessly with minimal resources. What is the value of knowledge in the absence of facilities to benefit from the knowledge? This is an aspect relevant to practically all fields, resulting in differing levels of frustration depending on the situation. In clinical genetics, physicians provide patients and families with a diagnosis. The patients and families gain additional information from the internet and are anxious to follow through on the information. A realistic understanding of utilizing the information to their advantage and the accessibility to facilities are the logical next steps. In a developing nation who do these families turn to for help in understanding if the information is applicable to them and if it is applicable how to take the next step? This is a valuable service that can be provided by trained genetic counselors.

Training genetic counselors

Training of genetic counselors may be broadly classified into basic science, genetics, clinical, laboratory, counseling, communication, sociology and cultural aspects. A basic knowledge in biochemistry, physiology and embryology is required for the understanding of the basis of genetic disorders and congenital malformations. Principles of genetics (modes of inheritance, calculating recurrence risks, variable penetrance and expression), and cell biology (structure and function of DNA, RNA and protein, transcription, translation) are important for understanding the basis of the disorders and in conveying this information to patients/families.

Genetic counselors should be knowledgeable on the clinical aspects of the most frequently encountered genetic disorders, their genetics and clinical management. This includes, cytogenetic, biochemical disorders, and adult disorders with a genetic or a multifactorial etiology.

Basic knowledge of the laboratory aspects related to cytogenetics, biochemical and molecular genetic testing is valuable in explaining them and their limitations to the patients.

Equipping genetic counselors with counseling techniques, communication skills and developing an appreciation for the social and cultural aspects of the population to be served are all valuable to successful genetic counseling.

Faculty members may be drawn from the existing faculty in the medical colleges and other departments in the teaching institutions. The curriculum should be designed with special focus on how the information will be useful in understanding and managing genetic disorders.

The importance of access to literature cannot be emphasized enough. Being a relatively new discipline, there is constant addition of information to the existing literature. The faculty and students should have access to the most current literature.

Internships in a variety of clinics where genetic counseling is conducted is invaluable for the training of genetic counselors. Supervised counseling by the trainees is also important for their professional development.

Role of genetic counselors

The role of a genetic counselor may vary and depends on the situation in which they function. Their activities include utilizing their skill in helping the clinician in the diagnosis and management of patients/families with a genetic disorder or a history of a genetic disorder. Another important activity of genetic counselors is to educate the patient/family on the various aspects of the genetic disorder in their family so that they can make informed decisions. The accurate diagnosis of a genetic disorder requires obtaining a detailed family history, review of the literature and use of specialized (sometimes relatively rare) laboratory testing. Many of these activities (including identifying a lab that performs the testing and making arrangements for these testing) can be time consuming. Genetic counselors can help physicians with these times consuming activities, thereby relieving the physicians to utilize their time more efficiently.

Conveying the diagnosis, results and risk figures in a manner that the patient/family fully understands can be challenging at times. This is because of the wide range of educational and socio-economic background of the patients/families. The genetic counselors can once again help the physicians during this process so that the physicians can use their time performing tasks that are more clinically relevant.

How the responsibilities of a genetic counselor are set up in a particular clinic/center is of course left to the discretion of the clinician responsible. Since genetic disorders are dealt with in a clinical setting, it is not unusual for patients to expect clinicians to be the individual they interact with. The clinician should discuss the role of the genetic counselor and inform the patient that the activities of the genetic counselor in the process of genetic evaluation and management are important and beneficial in the overall process. The clinician should also reassure the patient that the genetic counselor is a team member and discusses all the information with the physician so that the physician can arrive at the appropriate diagnosis and course of management - both of which are the ultimate goals for the patient/family.