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.

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.

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.