Posts Tagged ‘genetic counseling’
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?
Myriad Genetics Misrepresents Data Says Yale Genetic Counseling Program
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.
Playdates Foundation Brings Kids with Special Needs Together
This is the first post in a series profiling non-profit organizations. We want to spread the word about these inspiring groups to help them accomplish their shared goal of helping families affected by genetic disease.
Dennis Crosby is the CEO and Founder of Playdates Foundation, Inc.
What is the Playdates Foundation?
PlayDates Foundation, Inc. is an online based, non-profit organization that deals with socially connecting children with special needs. Our website hosts a directory of parents looking to connect their children with other children to go out on play dates. Our mission is to enrich the social quality of life for all children with special needs.
What inspired you to start the Playdates Foundation?
I have a 12 year old niece with Down syndrome. Over time, I have noticed the growing need for her to socially connect with other children. Her social life consists of school and a once a week ballet class. She has no real friends outside of class and no one to call on if she wanted to go do a simple activity such as watching a movie. I realized that is no life for a child to live, so I started PlayDates with the intention of correcting that problem.
Severe Combined Immunodeficiency (SCID) should be added to universal newborn screening programs
Recently, the Advisory Committee for Heritable Disorders in Newborns and Children (ACHDNC) unanimously agreed to recommend the addition of Severe Combined Immunodeficiency (SCID) to the universal newborn screening panel. The American College of Medical Genetics (ACMG) and the Immune Deficiency Foundation both support this recommendation. SCID is the first condition to be added to the universal screening panel since the ACHDNC adoption of over 20 recommended conditions in 2005.
SCID refers to a group of genetic condtions that cause immune system dysfunction. Children with SCID lack virtually all immune protection from bacteria, viruses, and fungi. They are prone to repeated and persistent infections that can be very serious or life-threatening. The organisms that cause infection in people with SCID are described as “opportunistic” because they ordinarily do not cause illness in people with normal immune systems.
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.
AccessDNA Partners to Expand Access to Genetic Counseling
In our quest to continue to provide broad access to appropriate genetic services, we have taken an important step towards making genetic counseling accessible to a much larger segment of the population. As I have discussed in a previous post, there are a limited number of practicing genetic counselors in the United States and, of those that exist, most practice in urban areas and university centers, while those who live in non-urban areas are often deprived of these important services.
To achieve this goal, AccessDNA has partnered with Informed Medical Decisions, Inc. to increase access to genetic counseling services to those millions of Americans who might not otherwise be able to access these services. Informed Medical Decisions is the largest, independent nationwide network of genetic counselors offering telephone-based genetic counseling services in the areas of prenatal, adult and cancer genetics. These services typically include personalized family history risk analyses, detailed discussion regarding the benefits and limitations of appropriate genetic testing options, and test coordination and interpretation. We are excited they have agreed to provide our increasingly larger user base with access to these important services continuing to make AccessDNA a leading source for reliable information, services and support to so our users can make informed decisions about the management, treatment and prevention of genetic disease.
For more information or to schedule an appointment, click here.
For the press release, click here.
Family History Missing from USPSTF Breast Cancer Screening Guidelines
Contrary to guidelines established by the American Cancer Society and other health organizations, this week, the U.S. Preventive Services Task Force (USPSTF) recommended against routine mammography in women aged 40 to 49 years. According to the statement, “the decision to start regular, biennial screening mammography before the age of 50 years should be an individual one and take patient context into account, including the patient’s values regarding specific benefits and harms.”
The USPSTF also recommends mammography every 2 years for women aged 50 to 74 years and does not provide a recommendation for women aged 75 or older. Of note, the USPTF does state that this recommendation only applies to “women aged 40 or older who are not at increased risk by virtue of a known genetic mutation or history of chest radiation.”
There are many debatable issues with these recommendations, but most troubling to me is the assumption that to have an increased risk of developing familial breast cancer, a genetic mutation must be known. As a genetic counselor, I know many women and men who have an increased risk of developing cancer based on their personal and family histories who have either chosen not to pursue genetic testing or have had unidentifiable mutations.
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.
#1 Inherited Cause of Childhood Death
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.
