To the Editor: Medical genetics and genetic counseling represent vital tools for communicating with patients about genetic risk, reproductive options, prenatal testing, and novel therapies. Medical geneticists and genetic counselors are the professionals in charge of genetic diagnosis and risk evaluation, representing the most important resource for communicating to patients all issues related to genetic diseases (both rare and common). There is a general consensus, promoted by the Eurogentest Network of Excellence (http://www.eurogentest.org), that genetic counseling should be a mandatory accompaniment to all medical genetics interventions. This becomes particularly relevant with the advent of high-throughput diagnosis, including noninvasive prenatal testing. Indeed, despite the potential for rapid results, the need for counseling delivered by expert geneticists must not be overlooked, and the issues surrounding data filtering and validation need to be addressed. This entails providing access to genetic counseling at various points within the health-care system, which will inevitably impact both national and local policy making. In the current economic climate, the medical geneticist is a relatively marginal figure, often restricted to a few specialist centers, even in countries of the European Union. Patients who are affected by rare diseases have the right to benefit from expert assistance in their clinical management, diagnosis, and care, no matter where they are or the rareness of their disease. Through the adoption of telemedical technology in genetics (telegenetics), as encouraged by various EU initiatives, the gap between specialists and patients may more easily be bridged. Multimedia telegenetics tools will enable us to provide interactive genetic consultations from a distance—feasibly to people in other countries—thereby increasing the accessibility of this invaluable service and helping to meet the needs of centers of excellence for rare diseases.
ver historia personal en: www.cerasale.com.ar [dado de baja por la Cancillería Argentina por temas políticos, propio de la censura que rige en nuestro medio]//
weblog.maimonides.edu/farmacia/archives/UM_Informe_Autoevaluacion_FyB.pdf - //
weblog.maimonides.edu/farmacia/archives/0216_Admin_FarmEcon.pdf - //
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