GeneTrends™

Archive for the ‘Drug Response Testing’ Category

What is AccessDNA?

We are often asked why we founded AccessDNA and how we hope to help people.  As a genetic counselor, I often get calls and emails from people located around the country looking for information about their genetic disease or that of a loved one. They may find my name in a directory at the National Society of Genetic Counselors website or they may find our website by doing a Google search and send me an email.  But, either way, they usually reach out because they are having a hard time finding any relevant information about their genetic disease or finding a genetic counselor in their local area since there are so few of us practicing in the United States.

We believe access to credible information and genetic services is critical for individuals and their loved ones when faced with a genetic condition.  Access to genetic counseling is especially important because genetic counselors have specialized training in assessing an individual’s risk to develop or pass on a disease or abnormality.  We are also trained in the medical aspects of the disease, such as symptoms and characteristics, disease management and treatment, as well as the psychological implications of disease on an individual or family.

AccessDNA was founded to help people get guidance and support in this emerging and promising area of medicine.  In an era where our knowledge of the genetics of both rare and common diseases, such as diabetes and heart disease, is rapidly advancing, and tests are being developed daily, everyone can use a little help understanding what this means for themselves and their family.

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Last week,I blogged about the important role genetic counselors play within the healthcare system. Today, I am heading to the National Society of Genetic Counselors (NSGC) annual conference in Altanta, GA, where I will meet with other genetic health professionals, watch presentations on the latest applications of genetic technologies and discoveries, and participate in educational sessions.

As a “younger” genetic counselor, I have, at times, taken advantage of the NSGC and the educational opportunities it provides without really appreciating the value of the organization. I pay my yearly membership dues and am proud to be a member, but I have never truly advocated for the NSGC like they advocate for genetic counselor.

Therefore, here’s my petite homage to the NSGC…

The NSGC is “the leading voice, authority and advocate for the genetic counseling profession.”  Incorporated in 1979, the NSGC’s mission is to advance “various roles of genetic counselors in health care by fostering education, research, and public policy to ensure the availability of quality genetic services.”

• For information about the history of the NSGC, read “An Oral History of the National Society of Genetic Counselors” by Audrey Heimler.

The NSGC has come a long way in the last 30 years. It now boosts over 2,000 active members, hosts an annual conference attended by genetic counselors and other genetic professionals, and publishes position statements and a widely-read journal, The Journal of Genetic Counseling, which continue to shape the field of genetics. The NSGC has even embraced social media with their very own facebook group and twitter account (@NSGC_Org).

So stay tuned, because I will be blogging about the NSGC conference highlights this upcoming week.

What is Camelot?

Columbia researchers choose the name Camelot for their statistical program that aims to predict how an organism will respond to medications.  Columbia researchers, Dana Pe’er, an assistant professor in the department of biological sciences and head of Columbia’s Computational Systems Biology Lab, and her colleagues worked with the yeast genome as a model.

Why is their research special?

Unlike many of their predecessors who utilized only DNA data to study drug response, they used a combination of DNA and RNA data to predict drug response and identify genes that affect drug resistance.  These researchers believe that by using RNA data and therefore, having a better understanding gene expression, the information gleaned provides a better understanding of what’s happening at the cellular level.

Why is this important?

This study and others may help provide a framework that will advance our understanding of how the human body metabolizes medications as well as the genes and genetic variations that affect drug response and resistance.

For more information, visit Columbia News.