Genetic Counselors are an incredible resource – they can help assess your risk of developing a condition, the risk of your children inheriting a condition, and what potential treatment or prevention options are available. Genetic counselors provide guidance, support, and information.
“As genetic counselors, our goal is not only to increase understanding and retention of key health information, but also to increase empowerment and agency. We want to help people understand their health on a genetic level, and then be able to meaningfully apply that information to their health care and daily life. That might mean communicating risks to relatives, embracing a screening and prevention program, or letting go of guilt and the idea that their future is predetermined by their genes.” – Julie Horsting, MR, MS, LCGC
The National Society of Genetic Counselors’ annual conference allowed genetic counselors from all over the United States and Canada to come together to discuss new treatment and testing options, case studies, and incredible stories.
Ashley Simpson Volz, MS, CGC presented “Enzyme Replacement Therapy for Mucopolysaccharidosis: How Ongoing Research Can Change the Understanding of Rare Diseases.” The presentation covered the availability, benefits, and shortcomings of ERT, and the prevalence of Newborn Screening (only 50% of states currently screen for MPS1). She acknowledged the diagnostic odyssey that many patients and families endure and the issues surrounding transition from pediatric to adult care.
She touched upon issues that are common amongst the rare disease community and nuances for genetic counselors to be aware of, prioritizing, of course, what is most important to patients-improved quality of life. Ashley shared a quote by geneticist Emil Kakkis, founder and president of the EveryLife Foundation and CEO of Ultragenyx Pharmaceutical Inc. which noted the profound impact treating a rare disease patient can have on both their life and on that of the healthcare providers.
“Most drug companies want to work on diseases that have millions of patients so that they can earn sufficient money and profit, but many of these treatments are modest improvements on those diseases. In the rare diseases, there may be very few patients, but the treatments are profound and make compelling changes in the life of these patients. Once you’ve treated one patient like that, you want to do it over and over again.” – Emil Kakkis, MD
Jenni Carroll, MS, LCGC responded on twitter, “Exactly THIS inspires me to be a GC — putting a name, albeit rare, to a person’s symptoms and advocating for them to get the care, medical including psychological, that they can benefit from.”
Presentations by Galen Joseph, PhD, Mari Gilmore, MS, CGC, Laura Amendola, MS, CGC, and Robin Tropp Lee, MS, LCGC, emphasized the importance of communicating effectively and the best ways for genetic counselors to achieve that.
Patients need to be met where they are. Only 12% of adults in the US have proficient health literacy – often the information provided in health care settings is complex, with unfamiliar medical jargon, and health systems are confusing to navigate.
It was suggested that genetic counselors assume all patients may have difficulty comprehending health information and accessing services and work to make the health system easier to navigate.
Health care providers should engage in two-way conversation to access comprehension. The “teach back” method, a research-based health literacy intervention, can improve patient-provider communication and patient health outcomes. Teach back involves an initial explanation, and then an assessment of how well the patient has understood by asking the patient to explain in their own words. To keep the patient from feeling quizzed, some good ways of doing this are asking, “If you were to share this with your loved one, how would you explain it?” or, “Did I miss anything? Can you let me know what I covered so I can make sure?” After the patient has explained back to the HCP, the HCP can clarify and rephrase before checking in with the patient again to make sure the important information is being comprehended.
CGCs were cautioned not to give too much information at once, but rather to prioritize what is most important, so critical information doesn’t get missed. Health care providers should let the patient be the guide and then gauge whether more information will be helpful or if it will obscure the important information. The initial discussion may need to be limited to key messages (“What does the patient need to know and do right now?”).
Studies have been shown that 40-80% of medical information patients are told during visits is forgotten immediately and half of what is retained is incorrect.
As a patient, keep in mind that information in the health field is acknowledged to be difficult to understand; don’t hesitate to ask your health care provider for clarification if there is something you’re not sure of. You can reap the benefits of the teach back method even if your provider doesn’t implement it themselves, by asking to explain back to them what they have told you to make sure that you understand. It is their job to convey your health information to you correctly, and in a way that you comprehend.
Presentations by Victoria Wagner, MS, CGC, Myla Asfaq, CGC, and Jennifer Lemons, CGC, discussed hot topics in Teratology including Zika, marijuana, and maternal therapies for genetic diseases. Examples were presented of how advancements in therapies indicated for rare diseases can ultimately benefit other populations. Unfortunately, the knowledge of safety and impact of these therapies during pregnancy tends to be limited. Most data comes from animal models – which also have limitations.
“Novel therapies for genetic conditions are increasingly available- they may be targeted towards rare diseases but, collectively, the population this could affect is not insignificant in aggregate. There is limited, if any, information about safety in pregnancy.”
It is important to take into consideration unknown risk factors of new medications that do not yet have long term data, but the advancements are promising.
“We don’t have all the information about the teratogenic effects of many new therapies yet, but we do know the benefit they can bring to patients themselves, and the importance of taking psychosocial components into account.”
Rebecca Alexander, LCSW-R, MPH, PLLC, Psychotherapist, award winning author, group fitness instructor, extreme athlete, and disability rights advocate, gave a moving presentation about her life with Usher syndrome.
Usher syndrome causes both hearing and vision loss and is categorized into three types. Usher syndrome type 1 involves deafness at birth and visual impairment over the course of childhood. Type 2 involves severe hearing loss and developing degeneration of the retina. Type 3 entails worsening hearing loss with late onset visual impairment.
“Imagine having an orphan subtype of an orphan condition.”- Rebecca Alexander
When Rebecca was twelve, her parents were told that she would be completely blind by the age of thirty. When faced with how to tell their daughter this, they settled on telling Rebecca she would have trouble seeing at night.
“I think that’s all I could have wrapped my mind about at the time.”- Rebecca Alexander
When Rebecca was nineteen, she woke up with such a loud ringing in her ears that she couldn’t hear anyone over it. She went to a doctor and was told she had Usher syndrome and that they had “never seen it as it presents itself in you.” She was told, in no uncertain terms, that she was going deaf and blind.
Rebecca decided that these were flaws, and she would rather let people assume she was running into things because she was drunk or needed them to repeat themselves because she was stupid, than let on that she was losing her sight and hearing. She was determined to be perfect to compensate for her condition and, in turn, developed an eating disorder.
In her early twenties she was living in LA, driving only during the daytime, trying to come to terms with her worsening vision and hearing and trying to “breathe in peace, breathe out fear.”
She moved to New York and, still grappling with the way her vision was deteriorating, fell down a set of cellar stairs and ran into a steel gate before deciding she needed to use her cane (striped, to indicate that she has both vision and hearing loss).
“I cried the first several times I used it. I was mourning the loss of my independence—my identity.” – Rebecca Alexander
Rebecca continued to adapt. Learning that her cane brought her a sense of security, and beginning to learn ASL as her hearing continued to worsen. Rebecca soon related to and integrated with the deaf community. At this point, she was still trying to learn more about her condition, and reached out to her family to send in blood for testing. It was discovered that Rebecca had Usher syndrome type 3, and she was case number one.
Rebecca also found out she was candidate for cochlear implants and, because hearing aides were not helping her much, she underwent the surgery and then extensive listening therapy. Her hearing improved.
“It was dramatic, it was life changing, it was a lot of work.” – Rebecca Alexander
Rebecca continued to encounter challenges and tough decisions but also continued to gain confidence. She worked out and found that she felt better making herself physically strong. Rebecca eventually became an ambassador for an athletic clothing line. She made sure her cochlear implant would be shown in photographs and videos, to make the point that strength and disability could coexist.
You can learn more about Rebecca Alexander’s story through her book, Not Fade Away: A Memoir of Senses Lost and Found.
Click here for part 2!
