Mayo Clinic Program Helps Integrate Genomics to Improve Care for Patients With Rare Diseases


The Mayo Clinic’s Program for Rare and Undiagnosed Diseases was first implemented in 2018.

Implementation of the Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD) and the Genetic Testing and Counseling (GTAC) unit, a clinical service model, has helped enable subspecialty practices advance their expertise in rare disease where genetic counselors have not historically been embedded in practice, new study results show.

Findings were published in Journal of Translational Medicine.

Rare diseases affect around 30 million Americans, and although a significant proportion of these conditions has an underlying genetic cause, they can still go undiagnosed.

Recently, the widespread use of social media, support groups for patients and families, and technological advances like next-generation sequencing have led to a better understanding of rare diseases.

However, “lack of awareness of [rare diseases] by doctors and health systems, absent or small registries, and shortage of available biospecimens of patients with [rare disease], limited funding, and scarce opportunities for blockbuster therapies have discouraged clinicians, researchers, policy makers, and pharmaceutical companies to significantly invest in [rare disease].”

The Mayo Clinic’s Center for Individualized Medicine (CIM) implemented PRaUD in 2018 to better serve patients and integrate genomics into subspecialty practice through targeted genetic testing, research, and education, the authors explained.

Subspeciality health care providers from 11 divisions identified patients who underwent targeted multigene panels or custom exome/genome-based panels. To support PRaUD, GTAC was established and launched in 2020 to improve access and increase efficiency for genetic test facilitation, the authors added.

“Patients receive abbreviated point-of-care genetic counseling and testing through a partnership with subspecialty providers,” they said.

To help address the significant shortage of genetic counselors, the GTAC unit also includes these specialists, along with genetic counseling assistants, genetic nurses, and a medical geneticist. To date:

  • 29 rare disease clinical indications are included in 11 specialty divisions/departments with over 142 referring providers
  • 1152 patients have been evaluated, with an overall solved or likely solved rate of 17.5% to 66.7% depending on the phenotype
  • 42.7% of the solved or likely solved patients underwent changes in medical management and outcome based on genetic test results
  • 9.5% of patients (81/855) evaluated at the genomic clinics of PRaUD were subsequently referred to the Department of Clinical Genomics for care either directly after triage of their history and clinical data or following unrevealing multigene panel results

Of the 1152 patients without a confirmed genetic diagnosis included in the study, 50.3% were female and 23.8% were under age 18. Age at the time of clinical genetic testing ranged from 1 year to 87 years.

A total of 617 individuals were offered targeted multigene panels, and custom clinical exome-based panels were completed for 219 individuals. Eighty-nine individuals were offered custom clinical genome-based panels.

“Democratizing access to genetic testing and counseling can broaden the reach of patients with [rare diseases] and increase the diagnostic yield of such indications, leading to better medical management as well as expanding research opportunities,” the authors wrote.

Nearly half of pretest and more than 95% of posttest GTAC appointments were virtual, underscoring the flexibility of this model to have staff work remotely.

“Improved access to genetic counseling and testing via a hybrid telehealth service can increase diagnostic yield, reduce time to diagnosis, and expand reach for [rare disease] indications where testing has been underutilized, ultimately positively impacting a patient’s care,” the researchers added.

Overall, the expansion if PRaUD bridges a critical genetic testing and counseling access gap, they concluded.


Vairo FPE, Kemppainen JL, Vitek CRR, et al. Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD). J Transl Med. Published online June 23, 2023. doi:10.1186/s12967-023-04183-7

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