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Single or Multigene testing – what has genomic evolution got for you?

posted on 7/10/2018 Facebook Facebook

There is a paradigm shift in the genetic testing landscape over the past several years especially in clinical genetic segment because of two major factors. The first is the development of Next Generation Sequencing - a high-throughput approach to DNA sequencing, massively parallel sequencing of multiple genes, more efficiency, low cost than the traditional Sanger sequencing methods. The second is the rapid turnaround times for multigene testing in a reasonably affordable manner became feasible.


Single/limited gene testing remains an excellent option when the clinical features, such as the patient’s personal and family history, are strongly indicative of a particular syndrome associated with a single or finite set of genes. Multigene panel testing is an appropriate option when the family phenotype is not suggestive of a single specific mutation and one or more hereditary cancer syndromes are in the differential. Additionally, panel testing is often considered if more focused initial testing is negative (e.g., BRCA1/2 testing followed by multigene breast/ovarian panel).


When it comes to the molecular profiling of tumor, multigene testing is potential for detecting incidental findings. Incidental findings are defined as unexpected positive findings. Simultaneous analysis of tumor and normal DNA allows for a characterization on which variants are unique to the cancer (i.e., somatic) and which are germline. Determining whether, which, and how incidental findings are returned to the patient is becoming increasingly important and beneficial. Multigene testing is important in cancers that, traditionally, are aggressive and metastasized. This option proves beneficial in cancer patients where immediate medical decision is important, than waiting for secondary DNA. By identifying patients who are unlikely to respond to standard treatment, more aggressive alternatives can be sought earlier in the course of therapy.


Although multigene panel testing provides a more comprehensive and efficient approach to testing an individual for a hereditary susceptibility to cancer, the information obtained can be challenging to interpret. The American College of Medical Genetics (ACMG) also states that the ordering clinician/team is responsible for providing the patient with comprehensive pre- and post-test counseling. ASCO also endorses that providers should honor patients’ decisions if they elect not to receive information about such incidental findings.


Disclaimer:The opinions expressed in this blog are representative of the author and may not express the views of Positive Bioscience. This blog is intended for education and information for the general public. Before making any medical decisions a medical professional must be consulted. All rights reserved.

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Disclaimer: Use for educational and informative purposes only. Omissions, errors and incomplete representations are possible. Information has been created to assist non-medical professionals and may be condensed or not fully represented. Positive Biosciences Ltd. makes absolutely no representations to the accuracy of the information presented here, strongly advises independent verification of all facts and cannot be held accountable for any damages whatsoever. Before making any decision(s) a qualified medical professional must be consulted. Information or consultations from Positive Biosciences Ltd. does not qualify as advise from a medical professional.