Ask the Expert: An Interview with a Pathway Genomics Genetic Counselor

Posted on 03/12/2015 in Blog Post, GC

Ask the expert
leslie

At Pathway Genomics, we are proud to offer the expertise of several genetic counselors to our clients and patients.

Leslie Ordal, M.Sc., a field genetic counselor at Pathway Genomics, answers some frequently asked questions:

Are all genetic changes harmful?

No. In fact, everyone has genetic changes – it’s why we’re all different. Some genetic changes, called pathogenic variants, can be harmful to an individual, and in some cases, to their children if passed down.

Many other genetic changes; however, are quite common and have no known effect on health – we call these benign variants, and they’re just part of natural human variation. Some genetic changes can even be beneficial, such as those associated with reduced risk for certain diseases like Alzheimer disease.

Can I fix a pathogenic variant in my genes?

This is a very common question, and right now the answer is no. Your genes are in almost every cell in your body, and there’s just no way to go in and fix an alteration in the genetic code in each and every cell. However, research is ongoing and may make this a possibility in the future.

Can a gene be turned on or off?

Genes are actually constantly turned on, or expressed, and turned off, or repressed, depending on where they are in the body and what the body currently needs. We have about 20,000 genes and they are the same in every cell. In any given cell at a given time, most of those genes are turned off. Turning genes on and off at specific times allows the body to grow and develop properly – making cells in the liver different from cells in the heart, for example.

We know that genes can be expressed or repressed due to signals from other cells or even the environment, but we don’t know much about the specific interactions quite yet. The new field of epigenetics is researching this very complex phenomenon.

What is the difference between genetics and genomics?

The word genetics has been around for a lot longer and usually refers to the study of individual genes and their role in disease or inheritance. Genomics is a newer term that refers to an individual’s entire genetic make-up, or genome to use the scientific term. Genomics looks at the genetic sequence of genes, and their structure and function as well as the interactions between genes.

Can genetic testing tell me if I’m vitamin-deficient?

Certain genes affect how efficiently the body metabolizes nutrients, including vitamins. A specific change in the FUT2 gene, for example, is associated with the metabolism of vitamin B12, causing lower levels in some individuals. Some people who have this change, however, have normal levels of vitamin B12 – they may already be getting a lot of B12 in their diet, for example.

The change in the gene just tells us about the predisposition to better or worse metabolism, not the actual levels of the vitamin itself. Depending on the individual and their current health status, finding that someone has this change in FUT2 may be a starting point for their doctor to check their actual B12 levels through a blood test.

What kind of support does Pathway Genomics offer to patients and their health care providers?

At Pathway, we understand that genetics can be a complex topic and that choosing the right genetic test isn’t always easy. Our genetic counselors are on hand to answer any questions you might have about ordering tests or interpreting results. Our genetic counselors also review the requisitions for our cancer tests, to assist the provider in ensuring the most appropriate test is being ordered.

In addition, we can talk to providers about test results – we will walk you through the report and options for the patient. Patients themselves are also welcome to call and make an appointment to speak to a genetic counselor if they have questions. All of this is provided at no additional charge.

Pathway Genomics Appoints Former Cedars-Sinai Chair of Medicine Glenn D. Braunstein, M.D., as Chief Medical Officer

Posted on 03/11/2015 in News, Press Releases

braunstein
San Diego, CA – March 11, 2015 – Pathway Genomics Corporation, a forward-thinking big data healthcare company and global precision medicine clinical laboratory, has announced that endocrinologist Dr. Glenn D. Braunstein is the company’s new Chief Medical Officer. Dr. Braunstein takes on the role after serving on Pathway Genomics’ Strategic Advisory Board. With a special interest in pharmacogenomics, Dr. Braunstein’s first priority will be Pathway Genomics’ pharmacogenomic testing menu.  

Obesity, Genes and Aging….Overlapping Magisterium?

Posted on 03/10/2015 in Blog Post, Editorial

By Michael Nova, M.D.
Chief Medical Officer
Pathway Genomics Corporation

By Michael Nova, M.D.
Chief Innovation Officer
Pathway Genomics

There has recently (2013-15) been a flurry of human clinical trial publications regarding gene-diet interactions, primarily concerning obesity and related phenotypes.

A new finding by the Genetic Investigation of Anthropometric Traits, or GIANT, consortium has identified 97 gene regions associated with obesity, tripling the number of such genes previously known.  

Former Speaker of the House Newt Gingrich Joins Pathway Genomics’ Advisory Board

Posted on 02/26/2015 in News, Press Releases

Gingrich
SAN DIEGO, CAFebruary 26, 2015Pathway Genomics Corporation, a CLIA and CAP accredited clinical laboratory that offers genetic testing services globally, announced that former Speaker of the U.S. House of Representatives Newt Gingrich has joined its strategic advisory board. A former candidate for president of the United States in 2012, Gingrich has spent more than four decades as a leader in American public life. During his time in Congress, he helped save Medicare from bankruptcy, shepherded FDA reform to help the seriously ill and initiated a new focus on scientific research, prevention and wellness.  

Pathway Genomics Appoints Anja Kammesheidt as Vice President of Research and Development

Posted on 02/19/2015 in News, Press Releases

Anja
SAN DIEGO, CAFebruary 19, 2015 – Pathway Genomics Corporation, a CLIA and CAP accredited clinical laboratory that offers genetic testing services globally, announced it has named Anja Kammesheidt, Ph.D., as its vice president of research and development. Based at Pathway Genomics’ San Diego headquarters, Dr. Kammesheidt brings more than 15 years of experience to the role. “We are honored to have Dr. Kammesheidt join our organization where she will oversee all assay development activities,” said Jim Plante, Pathway Genomics’ founder and CEO. “We know that her wealth of knowledge will be a major asset to the company and a vital component of reaching our commercial objectives as we move forward.”  

Renowned Genetic Counselors Join Pathway Genomics’ Advisory Board

Posted on 02/10/2015 in News, Press Releases

SAN DIEGO, CAFebruary 10, 2015Pathway Genomics Corporation, a San Diego-based CLIA and CAP accredited clinical laboratory that offers genetic testing services globally, announced that Jacquelyn Powers, M.S., LCGC, of the Hospital of the University of Pennsylvania, and Ofri Leitner, M.S., CGC, of the University of North Carolina at Chapel Hill, have joined Pathway Genomics’ strategic advisory board. Powers and Leitner are well-respected clinical genetic counselors that are intimately involved in the hereditary cancer programs at their respective institutions.  

Genomics and President Obama’s Precision Medicine Initiative

Posted on 02/06/2015 in Blog Post, Editorial, News

By Corine K. Lau, Ph.D., and Jane Z. Kuo, M.D., Ph.D.

President Obama announced the launch of a new Precision Medicine Initiative during his State of the Union address on January 20, 2015.

What does this mean for you and me?

 

Pathway Genomics Adds Dr. Julie Neidich as New Laboratory Medical Director

Posted on 02/03/2015 in News, Press Releases

SAN DIEGO, CAFebruary 3, 2015Pathway Genomics Corporation, a San Diego-based CLIA and CAP accredited clinical laboratory that offers genetic testing services globally, announced today that Julie Neidich, M.D., FACMG, FAAP, has joined our team as the laboratory medical director. Dr. Neidich comes to Pathway Genomics from GeneDx where she was the clinical director of the Whole Exome Sequencing Program. “Dr. Neidich has many years of experience in all aspects of genetic medicine and diagnostics, and she is a tremendous addition to our medical and science team,” said Jim Plante, Pathway Genomics’ founder and CEO.  

Myriad and Pathway Genomics Agree to Settle BRCA Patent Infringement Case

Posted on 01/23/2015 in Blog Post, News, Press Releases

SAN DIEGO, Calif., Jan. 23, 2015 – Pathway Genomics Corporation (“Pathway”) today announced a settlement agreement that ends the BRCA patent litigation against Pathway that began on June 13, 2014. Under the agreement, Myriad Genetics, Inc., the University of Utah Research Foundation, HSC Research and Development Limited Partnership, Endorecherche, Inc., and the Trustees of the University of Pennsylvania (the “Patent Owners”) and Pathway dismiss their respective claims and counterclaims against one another in the BRCA patent litigation. Additionally, the Patent Owners granted a covenant to not sue Pathway under the patents asserted in the litigation proceedings.  

Pathway Genomics Adds The Honorable Dan Glickman, Former US Cabinet Member and Member of Congress, to Strategic Advisory Board

Posted on 12/11/2014 in News, Press Releases

SAN DIEGO, CADecember 11, 2014Pathway Genomics Corporation, a San Diego-based CLIA and CAP accredited clinical laboratory that offers genetic testing services globally, announced that former U.S. Representative and Secretary of Agriculture Dan Glickman joined its strategic advisory board. “We’re honored to have Secretary Glickman as part of our advisory board,” said Jim Plante, Pathway Genomics’ founder and CEO. “In his 25 years in public service in Congress and as an advisor to the President as Cabinet Member, Dan Glickman distinguished himself as a solutions-oriented leader with impeccable integrity. His many accomplishments over that time speak for themselves, and we are extremely fortunate to now benefit from his vast experience.”  

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