Archive for the ‘Personalized Medicine’ Category
Top 5 Genetics/Genomics Blogs
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?
Personal Genomic Company Test Comparisons
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.
MD calls for widespread recognition of genetic counselors
In Dr. Bruce Beuhler’s latest post on his blog Human Genome and Clinical Diagnosis: The Yin and the Yang, he calls for the long overdue recognition of genetic counselors as valuable members of the healthcare team.
As Dr. Beuhler accurately points out:
“Many states do not license Genetic Counselors, and therefore insurers refuse to pay for services or assign codes for genetic counseling. The lack of reimbursement for genetic counseling services has limited placement of Board Certified counselors in private practices of Medicine. Presently a significant number of Genetic Counselors are in Academic practices, but are excluded from professional fee plans and faculty positions partly due to lack of recognition through licensure.”
Currently, there are only 6 states that have active licensure rules and regulations in place, while another 6 are currently writing rules and regulations for already passed licensure legislation. Although, there are several more states taking efforts to introduce licensure legislation, this struggle is far from over and widespread lobbying by genetic counselors and other allied health professionals is still needed.
What is AccessDNA?
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.
Archon X PRIZE for Genomics Confirms 2010 Winner Cannot be Predicted
In his most recent post, Steven Murphy, predicts that Complete Genomics may win the Archon X PRIZE for Genomics in 2010. Daniel MacArthur of the Genetic Future appears to disagree with this prediction.
We spoke to the good people at Archon X PRIZE for Genomics today, and they said this:
“We are excited by the updates that our eight competing teams have reported to us. However, there really is no way to accurately predict if the Archon X PRIZE for Genomics will be won this year. We look forward to additional teams entering the competition in 2010 and we anxiously wait to see what the future holds.”
If they know anything, they are sure keeping it to themselves. With this year’s registration deadline fast approaching, is a 2010 winner likely?
Is deCODEme trying to migrate their business model along with 23andMe customer data?
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?
Coping with Mental Illness During the Holidays
Many people find the holidays to be stressful because of the social, personal and financial responsibilities and obligations they often feel. This stress can be especially problematic for people with mental illness as it can trigger symptoms.
Although the causes of mental illness are largely unknown, they are believed to be multifactorial, which means genetic, lifestyle and environmental factors can contribute to the disorder. Some types of mental illness have a larger genetic component than others. For example, studies have demonstrated that when at least one person in a family has schizophrenia, the risk to close relatives to also develop schizophrenia is higher than the general population risk of 1%.
What can GINA do for you?
The Genetic Information Non-Discrimination Act (commonly called GINA) is a two-part piece of legislation that many are calling the most important anti-discrimination law in decades. Title I of this law, which prohibits health insurance companies from using genetic information to deny coverage or set payment rates, took effect in May 2009. Title II of this law, which prohibits employers from using genetic information when making decisions about hiring, firing, privileges and compensation took effect last week.
With both parts of GINA now in full effect, I wanted to collect useful and accessible resources on what GINA does and doesn’t do.
In no particular order, here are the top 10:
deCODE customers wondering what will happen to their DNA
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.
Happy 30th Birthday NSGC!
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.
