Advocacy groups for patients with genetic disorders

The characteristics of genetic disorders call for complex and comprehensive plan of management.  It requires the active participation of the family (immediate and extended), healthcare providers (specialists in various disciplines), basic scientists and support groups. 

Advocacy and support groups play an important role in ensuring that patients and families receive the required the services. Genetic Alliance is an organization that “serves as an open space for sharing valuable resources, creative tools, and innovative programs.”  http://www.geneticalliance.org/about. 

The Genetic Alliance provides a “Mandate for Quality Genetic Services” worthy of review.

http://www.geneticalliance.org/principles.

An advocacy group such as the Genetic Alliance could be a valuable resource for patients and families with genetic disorders.  Such a group should be one that forms a partnership with various facilities and groups and an information portal that could help patients and families with information required for the diagnosis, therapy and management.

Who will take the initiative to start such a resource?  It would be individuals familiar with the technical and scientific aspects of genetic disorders and familiar with the needs of patients and families.  That would be interested genetic counselors, clinicians, basic scientists and families of patients with genetic disorders.  It is worth reviewing the history of the Genetic Alliance http://www.geneticalliance.org/about/history.

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.

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.