The science of molecules that run the machinery of life is exciting, yet challenging. Exciting, because you can never have enough, and challenging because its powerful. As we lead the way to actualize the true potential of this fascinating universe, our overwhelming thoughts are but fundamental human attributes – Commitment. Responsibility. Solidarity.
Excerpts from the Position Statement dated March 16, 2015
issued by the American College of Medical Genetics and Genomics
The value of a genetic diagnosis is immeasurable – not just psychologically but also financially. It often brings resolution to the costly diagnostic odyssey that is pursued – sometimes over the course of years – in a quest to establish a diagnosis. New DNA sequencing technologies are greatly expanding the number of causative genes known for genetic disorders. We are finding that for many rare genetic disorders identified in children, there is a new mutation not carried by either parent.
This finding dramatically lowers the recurrence risk for future children and is extremely important for family planning. Further gene identification is a necessary first step for future development of specific treatment. Finally, for many adult disorders, such as inherited forms of cancer susceptibility, specific diagnosis enables testing other at risk family members and can often prevent disease or lead to earlier diagnosis with greatly improved prognosis.
Often a genetic diagnosis provides extremely valuable information not only to the patient but also to family members who are at risk for such disorders and who can take appropriate steps such as preventive measures or early treatment.There is great clinical value in arriving at a precise medical diagnosis, enabling, among other things, a disorder’s cause and prognosis, as well as frequently informing preventive and treatment modalities. Full statement is available at : ACMG Position Statement
Disclaimer and Limitations
Our Tests are intended to assist health care providers / clinicians in making decisions about appropriate management of diseases that have genetic concerns / origins / mediations. Our Tests and Reports are based on current scientific and clinical knowledge and the recommendations in the Report should not be construed as dictating an exclusive course of management, nor does the use of such recommendations guarantee a particular outcome.
Our Tests may be required to be used conjunctively / as a confirmation of the present methods of diagnosis / prognosis and the interpretation of results must take into account the clinical assessment of a particular patient. Our Tests are never intended to displace a health-care provider’s best medical judgment based on the clinical circumstances of a particular patient or patient population or statutory guidelines governing the management of a disease / medication.
Our Test Reports are required to be interpreted in accordance with the standards and practices of reporting adopted in molecular pathology / genetic analysis and are subject to the same limitations as applicable to such methodologies. Our Test Reports should not be acted upon in any manner other than by a duly qualified and registered Medical Practitioner holding a valid license under the relevant jurisdiction. Patient(s) may like to obtain counselling / advice from a qualified Medical Geneticist / Medical Practitioner before considering a Molecular Pathology / Genetic Analysis Test.