Posts Tagged ‘genetic consultation’
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.
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.
#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.
My experience with 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!!
How to find a genetic counselor on Facebook
As social media continue to flourish, all types of people and businesses are recognizing ways in which social media can help them better connect with others and reach their goals. Traditionally, I am not the biggest fan of social media, as it is extremely time-consuming and fills my brain with mostly useless information. I recently had a social media experience, however, in which I realized that it can be used as an effective tool to help me do my job.
As a genetic counselor, I am a member of many Facebook (FB) groups related to genetic diseases. About two weeks ago, I was FB emailed from a member of a genetic eye disease FB group asking me if I was affected with said disease, as her child was recently diagnosed. I replied that I wasn’t but am a genetic counselor, and I asked if she needed any help getting the resources she needs for her child and her family. She replied, “What is a genetic counselor?”
As one of the couple thousand genetic counselors in the United States, I often hear this question. Yet, I was still surprised when a parent of a child with a genetic disorder, someone who could benefit from seeing a genetic professional, hadn’t even heard of genetic counselors. So, what is a genetic counselor?
Genetic counselors are health professionals trained in both human genetics and counseling. Genetic counselors are trained in:
- Assessing risk for inherited conditions
- Offering appropriate genetic testing options (when available)
- Explaining the benefits and limitations of genetic testing
- Answering questions regarding genetic testing or inherited risk
- Educating about disease characteristics, management, prevention and follow-up
- Providing emotional support
- Referring to specialists or outside recourses (when needed)
Although there are many different reasons to see a genetic counselor, it is sometimes difficult to find local services. The National Society of Genetic Counselors has a directory that can be a good place to start. AccessDNA has also created a directory to help people access local genetic counseling services.
