Stefan M.Pulst, MD, FAAN, Editor, Neurology: Geneticsstefan.pulst@hsc.utah.edu
Submitted July 16, 2015
Dr. Thacker's correspondence is greatly appreciated, as he points out that
resources in a particular country may influence the use of medical and
especially genetic tests. I would like to point out that obtaining a
genetic diagnosis can have many additional benefits even in the absence of
disease-gene specific therapies. Chief among these are improved knowledge
of prognosis and progression and the possibility to make reproductive
choices. In addition, many patients experience the knowledge of the
precise etiology of their disease as a positive event that allows them to
face their challenges more easily. Cost of medical tests is a
consideration, especially in countries with limited health resources.
Fortunately, the cost of genetic testing is dropping rapidly and
individual gene tests can already be obtained at a cost less than costs
for brain imaging. Hopefully this exchange will stimulate further
discussion.
Stefan M. Pulst, M.D., Dr. med
Editor, Neurology Genetics
Dr. Thacker's correspondence is greatly appreciated, as he points out that resources in a particular country may influence the use of medical and especially genetic tests. I would like to point out that obtaining a genetic diagnosis can have many additional benefits even in the absence of disease-gene specific therapies. Chief among these are improved knowledge of prognosis and progression and the possibility to make reproductive choices. In addition, many patients experience the knowledge of the precise etiology of their disease as a positive event that allows them to face their challenges more easily. Cost of medical tests is a consideration, especially in countries with limited health resources. Fortunately, the cost of genetic testing is dropping rapidly and individual gene tests can already be obtained at a cost less than costs for brain imaging. Hopefully this exchange will stimulate further discussion.
Stefan M. Pulst, M.D., Dr. med Editor, Neurology Genetics