Credit: Journal of translational medicine (2023). DOI: 10.1186/s12967-023-04183-7
A Mayo Clinic study published in Journal of translational medicine has broadly evaluated the use of genomic testing for rare diseases. With the increased use of genomic tests such as multi-gene panels, exome sequencing and genome sequencing over the past decade, there is a greater opportunity to better diagnose and treat patients with rare diseases. As many as 10,000 different rare diseases exist, according to the National Institutes of Health, and an estimated 25-30 million Americans are affected by one of them.
In the four-year Mayo Clinic study, researchers evaluated 1,152 patients with rare diseases, performed genomic testing on 855 patients, and also evaluated the relatives of the patients tested. The overall percentage at which they determined or likely determined the cause of the disease was 17.5% and as high as 66.7%, depending on the phenotype (set of observable characteristics of a person resulting from the interaction of his genotype with the environment) .
As a result, 42.7% of the resolved or likely resolved patients had changes in their medical approach based on the results of the genomic test.
“Genomic testing has proven to be an accurate, scalable, and affordable tool for healthcare providers to diagnose rare diseases in patients with complex medical histories,” said Konstantinos Lazaridis, MD, the Carlson and Nelson Endowed Director of the Mayo Clinic Center for Individualized Medicine . “However, challenges remain for practitioners who lack the time, expertise, appropriate tools or experience to correctly interpret genomic findings.”
Dr. Lazaridis explains that determining the cause of rare diseases is difficult, time-consuming and requires specific skills, including training in sequence variant interpretation. There is also a need for communication and education of the healthcare provider, the patient and their families.
In 2018, the Mayo Clinic Center for Individualized Medicine created the Rare and Undiagnosed Diseases Program to integrate genomics-based care into practice, including targeted genomic testing, research, and education for patients with rare diseases and their families.
The program has an integrated team and process to support physicians leading the use of genomic testing in patient care. The team of clinicians, genetic consultants and research scientists has been integral in evaluating and validating genetic variants derived from multi-gene panel testing. This has led to more access to testing, better diagnosis, improved patient care, new knowledge and academic studies.
Additional findings from the genomic testing study
- There is a need for a multidisciplinary team to care for patients going through the genomic testing process. It is also important to understand the limitations of the different types of genomic tests.
- Genomic results could lead to the use of a targeted medication that can quickly resolve a patient’s symptoms and improve quality of life.
- Genomic testing for common diseases such as diabetes can aid in diagnosis and reveal monogenic causes, which are rare, ranging from 1% to 5% of children and young adults. Confirming the diabetes diagnosis can help improve medication management and outcomes for patients and their families.
- Incorporating an investigative component into clinical practice can aid in making a definitive diagnosis, enabling disease-specific medication or treatment to be prescribed.
- Genomic testing can help a patient’s currently unaffected family members understand whether they have an increased risk of developing a hereditary familial disease in the future.
A new service model is key to integrating genetic testing into patient care
In 2020, Mayo Clinic developed the Genetic Testing and Counseling Unit to improve access to and efficiency of genomic testing. The unit includes genetic counseling for patients and the ordering of genomic testing through subspecialty clinicians. It provides a streamlined approach to improve access to targeted genetic testing and counseling for identified conditions, reduce referral time, and provide just-in-time education for clinicians with limited access to genomic testing and no formal genetic training.
The researchers note that the model bridges a critical gap for genomic testing and access to counseling, preserving continuity of care and referring patients who would most benefit from further evaluation with trained medical geneticists.
They suggested that a hybrid telehealth service could increase the number of patients diagnosed, reduce the time it takes to get that diagnosis, and expand testing for rare diseases where it is underutilized.
“It helps patients understand the expectations and limitations of testing options, the potential impact on clinical treatment, and implications for family members,” said Filippo Pinto e Vairo, MD, Ph.D., the study’s first author.
More information:
Filippo Pinto e Vairo et al, Implementing Genomic Medicine for Rare Diseases in a Tertiary Health Care System: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD), Journal of translational medicine (2023). DOI: 10.1186/s12967-023-04183-7
Quote: Research team uses genomic testing broadly for rare diseases, improves patient care (2023, June 26) Retrieved June 26, 2023 from https://medicalxpress.com/news/2023-06-team-genomic-broadly-rare-diseases.html
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