Opening a World of Hope for Patients and Families Living with Rare Diseases
A special focus for the InformedDNA team is to heighten awareness about the value of genetic testing for individuals and families living with rare diseases. We have a long-standing commitment to improving their care, while better managing costs through genetic testing and counseling. Whether we’re advising health systems and providers or advocating for patients, we are focused on increasing access to clinical and scientific genomics expertise.
Fast facts about rare diseases:
- In the U.S., a rare disease is defined as a condition that affects fewer than 200,000 people.
- There are well over 6,000 rare diseases affecting more than 300 million people worldwide, or about 1 in 20 people. This includes an estimated 25-30 million Americans.
- Rare Disease Day, an international event, is held on the last day of February each year to raise awareness about rare diseases.
Getting to the right diagnosis and treatment quickly
Individuals with rare diseases often face challenges in getting an accurate diagnosis. The diagnostic odyssey can be long and arduous, with misdiagnoses and inappropriate treatments along the way. Genetic testing can be a powerful tool, helping reduce barriers and time to diagnosis. By hastening diagnosis, treatment options may become available sooner and at an earlier stage. This has the potential to profoundly influence quality of life.
In the last five years, we have witnessed a remarkable increase in the ability to quickly diagnose rare diseases. Much of the speed is attributable to increasing genetic testing options, which enable testing labs to test for many- often hundreds- of genes at once. For some conditions, including rare seizure disorders, identifying the underlying molecular cause can result in getting to the right medication the first time, instead of costly and frustrating trial and error. For others, including some retinal diseases and neurologic conditions, identifying the genetic subtype of disease can enable a patient to qualify for a clinical treatment trial.
InformedDNA not only assists in revealing diagnoses and treatment options more quickly, genetic counselors also provide powerful information for at-risk family members.
InformedDNA works with pharmaceutical companies who are developing “orphan drugs” for people with rare diseases, as well as with foundations that play a key role in patient education and advocacy. We assist them in developing strategies for improving patient identification, recruitment, engagement and participation. By removing cost and access barriers to genetic counseling and testing, these organizations help patients obtain accurate genetic diagnoses. Diagnosis is the starting point for exploration of new therapies — which has great value for everyone: patients, families, providers, health plans, advocacy organizations, and pharmaceutical companies.
The field of genetics is advancing so quickly, it can be difficult for non-genetics providers to keep up with the pace or stay abreast of testing and treatment options for patients with rare diseases. InformedDNA genetic counselors frequently serve as navigators for patients and providers. By providing these services via telemedicine, physicians can improve the diagnosis and management of patients in their practice without changing current practice models or becoming genetics or rare disease experts.
We’re obsessed with the field of genetics
We see first-hand, every day how getting a definitive genetic diagnosis reduces anxiety and concern for patients and their families. Having a genetic diagnosis can make a huge difference in the sense of empowerment and, in many cases, inspires new hope. When a patient or provider is overwhelmed by the fact that more than 200 genes can cause a single condition, staying abreast of the latest research is insurmountable. Honing in on the relevant gene or condition narrows the search for manageable follow up, increasing patient confidence and engagement.
Some examples from our experience:
- Hereditary TTR amyloidosis, caused by mutations in the TTR gene, is a progressive neurodegenerative disease with symptoms that start in adulthood. Many patients require wheelchair assistance within just a few years of diagnosis — and their children learn that they have a 50 percent chance to have inherited the disease-causing mutation. Prior to recent advances, there was little chance of effective therapy. Now, with the availability of genetic testing and counseling, and the recent approval of an RNA interference therapy for this condition, at-risk family members who choose to undergo genetic testing can proactively seek treatment as early as possible for the best chance of slowing disease progression. Formerly heartbreaking conversations with patients and families in this community are now filled with hope.
- InformedDNA genetic counselors recently worked with a woman in her 50s who was having trouble with things like climbing stairs and getting out of chairs, noting she and her brother and some cousins had been “clumsy” since childhood. After all these years, she pursued genetic testing. With the assistance of pre- and post-test genetic counseling, she was ultimately given a diagnosis of Bethlem myopathy. This is a rare disease affecting skeletal muscles and connective tissue, characterized by slowly progressive muscle weakness and joint stiffness. She is now better equipped to anticipate her health challenges, connect with the most appropriate health care providers and treatment options, and address the emotional impact of her diagnosis.
Our passion and vision for helping patients get the right genetic tests at the right time that lead to better care is what drives us. We are parents; we are brothers and sisters; we are sons and daughters. That’s why we’re obsessed with genetics and the implications of genetic testing. We believe that everyone benefits from having the ability to make informed decisions.
From the Front Lines: Meet Yuri Zarate, M.D., Medical Geneticist, Arkansas Children’s Hospital
InformedDNA employees often use their skills and experience to volunteer in local communities. Julie Kaylor, client executive, first met Dr. Zarate when she volunteered at Arkansas Children’s Hospital. Impressed with his contributions to clinical and scientific genomics, Julie shares this story from the front lines.
Only in recent years has genetic testing become accessible enough and sensitive enough to diagnose many new rare genetic diseases. One of the reasons Dr. Zarate chose pediatric genetics was his fascination with one small change in a molecule leading to such dramatic effects in a patient. Raised in Colombia, Dr. Zarate also recognized that there is not enough access to genetics knowledge worldwide, leaving many children and their families without answers.
Through his work establishing the world’s first SATB2-associated syndrome (SAS) clinic, he connects SAS families with one another, which helps to provide much-needed support. Families say they are grateful for the ability to connect with others who are dealing with SAS. The ability to accurately diagnose SAS has led to increased knowledge about the condition, resulting in the development of better treatment plans for individuals with this rare diagnosis.
*SAS is caused by alterations of the SATB2 gene. This gene produces a protein called SATB2, which has important roles in how organs and systems in the human body develop. The main symptoms of SAS include: severe speech anomalies; abnormalities of the palate; teeth anomalies; behavioral issues with or without bone or brain MRI anomalies; and, onset prior to two years of age. (It is important to note that these are not seen in all patients and do not concretely lead to a diagnosis of SAS.)
Dr. Zarate was instrumental in creating the SATB2gene web site and celebrates SATB2 Awareness Day each August 22.
“I feel very fortunate to have experienced first hand how the work that Dr. Zarate and his team are doing is leading the charge in providing valuable resources and services to families affected by SAS.”
– Julie Kaylor, client executive, InformedDNA
To learn more about InformedDNA’s services, simply fill out the form below, or call us at 800-975-4819.
For more information:
- National Organization for Rare Disorders (NORD)
- U.S. Department of Health & Human Services Genetic and Rare Diseases Information Center (GARD)