A Study of Whole Exome Sequencing and Other Omics in Human Disease

Overview

About this study

The purpose of this study is to test new technology called Next Generation Sequencing (NGS) that may help identify possible useful genetic information for your clinical care. NGS is a procedure that looks at all of your genes (the genetic material you have inherited from your parents). In this study, we want to collect detailed family history of enrolled patients, when available through an electronic-based, pedigree tool, identify exomic variants in patients using whole exome sequencing, understand how patients use the results of the genomic sequencing, and create a data repository of clinical phenotypes of patients linked to their genomic variant.

We may conduct additional research on the information using various computational programs to better understand the genetic changes being reported. We also want to store samples and genetic information for future research using further tests to determine the clinical significance of genetic variants identified during the genomic testing process.

Participation eligibility

Participant eligibility includes age, gender, type and stage of disease, and previous treatments or health concerns. Guidelines differ from study to study, and identify who can or cannot participate. There is no guarantee that every individual who qualifies and wants to participate in a trial will be enrolled. Contact the study team to discuss study eligibility and potential participation.

Inclusion Criteria

  • Patient must have evidence of a condition or a suspected genomic disorder for which previous genetic or other testing has not provided a diagnosis, or be a biological family member of such a patient.
  • Patient/family member is willing to undergo session(s) with a genomic counselor (GC).
  • Patient must understand and provide written informed consent and HIPAA authorization prior to initiation of any study-specific procedures. For a pediatric patient and patient without capacity to consent for him/herself, parents or legal guardians must understand and provide written informed consent and HIPAA authorization prior to initiation of any study-specific procedures.
  • Participants of any age are eligible to participate.
  • Pregnant women may participate in this research study. Should research results be returned that would have implications for offspring the participant will be offered genomic counseling.

     Exclusion Criteria

  • Patient who has an uncontrolled concurrent illness including psychiatric illness, or situations that would limit compliance with the study requirements or the ability to willingly give written informed consent, and who does not have a legal guardian who will take responsibility for ensuring compliance with study requirements and can provide consent on his/her behalf.
  • Family member participants will not be eligible for research study if the proband/surrogate declines participation.

Participating Mayo Clinic locations

Study statuses change often. Please contact the study team for the most up-to-date information regarding possible participation.

Mayo Clinic Location Status Contact

Rochester, Minn.

Mayo Clinic principal investigator

Konstantinos Lazaridis, M.D.

Open for enrollment

Contact information:

Center for Individualized Medicine

(507)293-0792

Jacksonville, Fla.

Mayo Clinic principal investigator

Douglas Riegert-Johnson, M.D.

Open for enrollment

Contact information:

Center for Individualized Medicine

(507)293-0792

Scottsdale/Phoenix, Ariz.

Mayo Clinic principal investigator

Suryakanth Gurudu, M.D.

Open for enrollment

Contact information:

Center for Individualized Medicine

(507)293-0792

More information

Publications

Publications are currently not available

Study Results Summary

Not yet available

Supplemental Study Information

Not yet available

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CLS-20492740

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