CONSTITUTIONAL WHOLE GENOME SEQUENCING (WGS) FOR PREDISPOSITIONAL GENETIC SCREENING (P-GSc)

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NYGC is the only clinical laboratory offering New York State-approved clinical WGS tests for predispositional genetic screening.

 

Whole Genome Sequencing for Predispositional Genetic Screening (P-GSc) utilizes the power of whole genome sequencing (WGS) and applies this technology to individuals who are currently healthy and looking to further understand their genetic information. This test consists of three different classifications of genetic results:

 

Genetic predisposition for well-defined genetic conditions for which there is available screening, treatment and/or intervention.

These genetic conditions and the associated genes are determined by the American College of Medical Genetics (ACMG) and are included in their current guidelines, listing 59 medically actionable genes. The current ACMG policy statement on secondary findings is available online (PubMed ID: 27854360) https://www.ncbi.nlm.nih.gov/pubmed/?term=27854360 and provides information on a variety of conditions including cardiac disorders, connective tissue disorders, cancer/tumor syndromes and risk for adverse side-effects from certain types of anesthesia.

 

Carrier status of select autosomal recessive (AR) diseases for reproductive carrier screening.

This status provides an abundance of information on specific conditions that may cause severe pediatric disease in an autosomal recessive inheritance pattern.

 

Well-established pharmacogenomic variants that have been shown to make the use of specific drugs unsafe or ineffective.

Not all patients respond to drug therapy in a uniform and beneficial fashion. This test helps analyze an individual’s genetic variation to certain drug responses to provide important personalized information regarding drug safety or efficacy.

 

The comprehensive nature of the P-GSc test provides a unique insight into an individual’s genetic information, and is designed to be completed in conjunction with genetic counseling from an individual’s physician and/or genetic counselor both before and after testing.

 

Deliverables

 

NYGC’s Clinical Laboratory returns results within 4-6 weeks on a standard basis, but can provide more rapid turnaround if needed.  Results are sent to the physician and/or genetic counselor (due to the complexity of genetic testing and potential implications of the test results) who then discuss the results with the patient. The results of this test can become part of the patient’s medical record.

A report will be provided indicating known pathogenic variants from the American College of Medical Genetics and Genomics (ACMG) guidelines for medically actionable genes. Additionally, the report will also include well established pharmacogenomic variants and carrier status for severe autosomal recessive diseases.

 

Ordering instructions

 

A physician can order the test using NYGC’s test requisition form and must obtain informed consent. This test requires at least 2ml of blood drawn in an EDTA tube or saliva specimen collected in an Oragene Dx collection kit or DNA extracted in a CLIA-certified laboratory. Samples should be shipped to NYGC overnight via FedEx. A courier service may also be feasible.

 

For testing requisition and more information, please contact us at: clinical@nygenome.org