GeneTrends™

Archive for the ‘Direct-To-Consumer Genetic Testing’ Category

Genomics is a rapidly evolving world of scientific, ethical and logistical facts, myths and issues to be considered.

Top 5 Blogs I Read:

1. Genetic Future

Author: Daniel McArthur

Twitter: @dgmacarthur

Daniel writes “about the genetic and evolutionary basis of human variation, and the companies trying to sell you information about your genome.”

2. Genomics Law Report

GLR Editor: Daniel Vorhaus

Twitter: @genomicslawyer

“The Genomics Law Report focuses on the legal implications of important developments in the fields of genomics and personalized medicine — including key litigation, legislative, regulatory and policymaking activities — in order to facilitate understanding of the complicated and shifting legal landscape governing genomic and personalized medicine commerce and research.”

3. The Genetic Genealogist

Author: Blaine Bettinger

Twitter: @blaine_5

“The Genetic Genealogist examines the intersection of traditional genealogical techniques and modern genetic research. The blog also explores the latest news and developments in the related field of personal genomics. To learn more about me or about genetic genealogy, please explore the site.”

4. The DNA Exchange

Authors: Allie Janson, Jessica Giordano, Kelly Rogel, Laura Hercher and Robert Resta

The DNA Exchange is a “group of genetic counselors with an interest in public discussion of genetics-related issues. This is a place for GCs to express opinions and comment on personal, clinical, and professional issues in genetics through a centralized and public forum. We hope to engage the genetic counseling community as well as other health professionals and stakeholders.”

5. NSGC President’s Blog

Author: Liz Kearney

Twitter: @nsgc_org

“As President of NSGC, Liz Kearney is responsible for leading the association and serving as the chief spokesperson. Liz is committed to promoting the many benefits genetic counselors bring to patients and other healthcare professionals. She can also comment on issues related to genetic counselor training and licensure, public policy issues such as oversight and access to genetics services, timely news topics related to genetics, and legislative efforts and successes such as the Genetic Information Non-Discrimination Act (GINA).”
 

Did I miss any good blogs?

In a recent post, the Yale Genetic Counseling Program refutes several statements made by Gregory Critchfield, MD, MS, president of Myriad Genetic Laboratories, Inc. in a recent letter to the  Secretary’s Advisory Committee on Genetics, Health, and Society (SACGHS). The letter was sent in response to comments made by Lisa Schlager at the October 2009 SACGHS meeting in which she expressed her belief that Myriad representatives do not encourage referrals to genetic experts.  Lisa Schlager is the Washington DC outreach coordinator for the organization Facing Our Risk of Cancer Empowered (FORCE).

The Yale Genetic Counseling Program does a great job weeding out fact from fiction as it breaks down Critchfield’s letter statement by statement.

Myriad Statement:

Community physicians can capably perform genetic counseling and deliver genetic services to patients in their practice.

Fact:

As evidence supporting this statement, Myriad cites a single study published by Keating et al in 2008.  However, Myriad distributed the surveys for this study and included a $20 prepaid cash incentive with each survey.  Myriad fails to mention that physicians in this study were frequently assisted by genetic counselors, nurse geneticists, or other counselors in providing genetic counseling.  They also fail to mention that physicians who were assisted by these other providers were more likely to provide appropriate counseling (i.e. discuss all six recommended counseling items).  Myriad also overlooks the bulk of data from multiple studies indicating that most providers lack the time, knowledge, and/or awareness of pertinent issues to provide adequate genetic counseling.”

For an in depth look at this eloquently executed post, click here.

Most genetic diseases can be broken down into three main categories:

1. Mendelian Disorders (such as Huntington’s disease, cystic fibrosis, Fragile X syndrome and sickle cell anemia)
2. Chromosomal Abnormalities (such as Down syndrome, Trisomy 13, Trisomy 18, and translocations)
3. Multifactorial Diseases (such as diabetes, heart disease, non-familial Parkinson’s disease and late-onset Alzheimer’s disease)

Traditionally, the genetics community has focused their clinical and research efforts on the “classic” genetic diseases, mendelian disorders and chromosome abnormalities. Collectively, these conditions affect a large percentage of the population, but individually, some of these conditions are considered rare because they affect a small number of people. In contrast, many multifactorial conditions are common and related to much of the cost to our healthcare system. Recent advances in genetic technologies and the subsequent emergence of personal genomics companies, such as 23andMe, Navigenics, deCODEme and Pathway Genomics, have shifted media attention away from the rarer, “classic” genetic diseases and towards the promise of discovering the genetic components of multifactorial disease in order to create more effective treatment and prevention options.

Read the rest of this entry »

SNPs are small variations in a single “letter” of DNA that can be found throughout our entire genetic make-up. Personal genomic companies, such as 23andMe, Navigenics, Pathway Genomics, Gene Essence, and deCODEme, analyze thousands of SNPs at once related to various diseases and traits.

Because a number of individuals have shared their personal risk analyses and genotypes, we know that there are differences between personal genomic companies’ disease risk predictions. These discrepancies are largely due to the absence of accepted standards for selecting disease risk markers.

To easily compare testing options presently available directly to consumers, the following charts highlight the wide variation between SNPs analyzed by these companies. To be complete, Coriell Personalized Medicine Institute, who in contrast tests for very few SNPs, is included in the review comparison.

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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.

Read the rest of this entry »

Daniel MacArthur of Genetic Future postulates that deCODEme’s decision to offer existing 23andMe customers the ability to upload their raw data into deCODEme’s service for free is a way to introduce and impress consumers with their own interface.

Dan Vorhaus of Genomics Law Report points out that deCODEme may be looking for a cost-effective manner in which to pursue a DTC genomic research model.

As Daniel MacArthur states in his post:

Those of you who’ve been following the personal genomics industry will know that the value of genome scans is not in the actual generation of the data (this is a straightforward procedure), but in the breadth and quality of the interpretation service.

Maybe, deCODEme is transforming themselves…from test provider to data interpreter. Why?

Read the rest of this entry »

The recent chapter 11 filing from deCODE Genetics has left many of their customers questioning the security and privacy of their DNA sample and their genomic data.

Daniel MacArthur of Genetic Future provides a good summary of his understanding of what this means for deCODE here.

Speculation as to what will occur to customer’s genomic data when a personal genomics company, such as deCODE, files for bankruptcy is provided in recent guest posts from Dan Vorhaus and Lawrence Moore on Genetic Future, here, here and here.

Although there are many debatable issues regarding personal genomics, it is unquestionably important to review a company’s privacy policy prior to ordering an at home genetic test and to contact it’s customer service department with any questions  AccessDNA evaluates at home genetic testing providers on a number of criteria, including whether they have a privacy policy that is clearly visible on their website.

deCODEme’s privacy policy can be found here.

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.

Last year, the American College of Medical Genetics (ACMG) recommended that all couples who are pregnant or planning to become pregnant are offered carrier testing for spinal muscular atrophy (SMA).  As many OB/GYNs are now routinely offering SMA carrier testing to their patients, expecting parents are searching for reliable information about this disorder – making SMA one of the most trafficked pages on AccessDNA.com.

Spinal muscular atrophy is a group of genetic disorders that affects muscle movement and causes muscle degeneration and weakness. SMA is divided into types (SMA Type 0 – SMA Type IV) based on symptom severity and the age of symptom onset.

SMA is primarily caused by alterations in a gene called SMN1 at the location 5q13. SMA has autosomal recessive inheritance, which means that two alterations, one in each gene copy, are necessary to cause the disorder. Extra copies of a gene called SMN2, located next to the SMN1 gene, appear to modify disease severity.

In individuals with no family history of SMA, the risk of being a carrier is dependent upon ethnic background. For example, about 1 in 35 Caucasians, 1 in 50 Asians, 1 in 65 African-Americans, and 1 in 115 Hispanics are carriers of SMA. In individuals with a family history of SMA, the risk of being a carrier can be even higher. Two carriers have a 25% chance with each pregnancy to have an affected child.

Carrier testing is usually performed on a blood sample. As carrier testing typically detects only common alterations in the SMN1 gene, a negative result greatly reduces the risk of being a carrier, but does not completely eliminate it. A genetic counselor can help explain the risks, benefits, and limitations of SMA genetic testing.

As a founder of AccessDNA with no science background, I am often asked why on earth I choose to devote all of my professional efforts to building a company in the emerging consumer genetics space.  While genetics is about as “personal” as it gets, for me it is even more so because my first experience with genetic testing related to the birth of my daughter, Everson.

You see, I am privileged for so many reasons, not the least of which is that I live in a city that has some of the best genetics professionals around.  Sadly, there are few of these professionals in the U.S. and I am positive many people would benefit from their services if awareness and access were greater.  And it is not just about the prenatal testing that I experienced.  There are plenty of other testing types out there that have the potential to enormously impact healthcare, including drug response testing and other clinical medical genetic testing.

That is where AccessDNA comes in.  I felt there was a need to help others understand more about their genetic risks and access appropriate genetic testing and services.  Fortunately for me, and the thousands of others that are already using AccessDNA, my genetic counselor (and one of the best in the biz) shared a similar vision for how the internet could be the perfect medium for delivery of this hard to find information and services.  From the moment she left Genzyme to cofound the company and take the lead hand in creating all the content you find on our website, Jordanna has been the perfect partner and we are all lucky to have access to her!!