Challenges remain in genetic testing for primary immunodeficiencies
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Key takeaways:
- Genetic testing is driving the increased number of diagnoses.
- Physicians who lack access to testing are encouraged to connect with colleagues.
- Treatments are available even if they are not on label.
WASHINGTON — Genetic testing has increased the number of patients diagnosed with primary immunodeficiencies, Eveline Wu, MD, MSCR, told Healio during the American Academy of Allergy, Asthma & Immunology Annual Meeting.
Yet barriers remain for many other patients, continued Wu, attending physician in the division of pediatric allergy and immunology and division chief of pediatric rheumatology at the University of North Carolina at Chapel Hill.
“We are definitely seeing an increase in the number of immune deficiencies, particularly those that are characterized by immune dysregulation,” Wu said. “Even still, with that, they’re quite rare.”
Immunodeficiencies related to humoral immune deficiencies are among the most common that Wu is seeing in her own practice, she added.
“It is really exciting that as the number of recognized immune deficiencies or inborn error of immunity conditions continue to grow, what accounts for a lot of that growth are those disorders that are defined by immune dysregulation,” Wu said.
Genetic testing is driving these increases in identification, she said, along with greater awareness as physicians strive to find molecular diagnoses. Also, Wu said, improved technologies have made genetic testing less labor-intensive and more accessible.
But while testing such as targeted panels are more available, she said, other testing such as whole exome and whole genome sequencing are more challenging to get, adding that she would like to see easier access to more advanced genetic testing technologies.
“That’s where I’m hoping the field will continue to evolve,” Wu said.
Wu also said she was encouraged by current efforts to clarify available information about these disorders and the testing that is available for them, such as identifying and classifying the significance of specific variants.
“It can be more definitive, as far as pathogenic or likely pathogenic or definitely benign,” Wu said. “That’s one area that is more immediately being worked on.”
But along with access to testing for patients, physicians need access to resources that can help them interpret the results of these tests, Wu said. Fortunately, she said, “phoning a friend” is an option as clinicians can reach out to colleagues for help.
“If you don’t have access or can’t get clinical access to whole exome or whole genome sequencing, or sometimes sequencing of a particular gene, look for people out there who are doing that and can and are willing to help you,” she said.
When novel genes or gene variants are identified, Wu said, the ability to collaborate with someone who has the expertise to determine if these variations can explain the underlying biology of the issue a particular patient is experiencing can be a great benefit.
Also, targeted therapies may be able to treat these diseases even if they are not part of the therapy’s label, Wu said. But learning about these therapies and getting them initiated may be challenging for physicians, she said.
“It can be really challenging again,” Wu said. “It comes down to access, but not necessarily access to genetic testing, but access to potential treatments that could be lifesaving for them.”
Finally, Wu noted that some commercial companies offer programs when insurance does not provide coverage for testing and treatment too, expanding access.
“They try to reduce out-of-pocket costs and make it affordable,” Wu said.
For more information:
Eveline Wu, MD, MSCR, can be reached at eywu@email.unc.edu.