R John Presutti, D.O., FAAFP

Closed for Enrollment

• Mayo Clinic Health TAPESTRY: Use of Genomic Sequencing in Clinical Practice (TAPESTRY) Rochester, Minn., Jacksonville, Fla., Scottsdale/Phoenix, Ariz.

  Tapestry is a Mayo Clinic research study, which includes receiving genetic sequencing data from Helix, up to the full whole exome dataset. The goal of this study is to provide: (i) an immediate interpretation of ancestry/genealogy and several non-disease traits, as well as, clinically actionable variants for an inherited form of high cholesterol called familial hypercholesterolemia (FH), breast and ovarian cancer (HBOC), and Lynch syndrome to each participant; (ii) an additional subset of focused clinically actionable genetic findings, such as, certain types of hereditary cancers, hereditary heart conditions and severe responses to certain medications, will be returned to the provider and to the participant, via the provider, genetic counselor consultation, and/or Mayo Clinic research interpretation; (iii) storing of genomic and phenotypic data for future research analysis.

• Mayo Clinic Tapestry 2.0: Applying Multi-Omics for Scientific Discovery (Tapestry 2.0) Jacksonville, Fla., Rochester, Minn., Scottsdale/Phoenix, Ariz.

  The goals of this study are to collect and store biospecimens (e.g., blood, urine, saliva, stool) in order to support future research. These biospecimens will be tested and used to better understand why a disease or disorder occurs and how it progresses over time. This knowledge could aid future patients.

• Multi-Cancer Detection Observational Cohort Study Rochester, Minn., Jacksonville, Fla., Scottsdale/Phoenix, Ariz.

  Novel, high-performance genomic technologies now allow detection of signals from cancers in the blood, giving rise to a new paradigm of multi-cancer detection (MCD) tests. Blood is inherently well suited for detection of cancer biomarkers as it contains circulating tumor cells and tumor cell-free DNA (cfDNA) that have been “shed” from an occult asymptomatic developing cancer. MCD tests analyze these genomic features of the circulating DNA, distinguish it from background signals and determine a site of tumor origin to guide subsequent testing to establish a firm cancer diagnosis (hopefully pre-symptomatic early stage and highly curable). An effective MCD test should have three features: a reasonably high aggregate sensitivity, coverage of a wide range of tumor types and a very low false-positive rate. There are currently multiple companies with MCD tests in production.

  This study proposes a prospective observational registry study involving patients who have undergone clinical MCD testing at Mayo Clinic or referred to Mayo Clinic with MCD test results for further evaluations and management.

• PRe-emptive GEnome Discoveries Improving Care for Biobank VolunTeers (PREDICT) Rochester, Minn., Jacksonville, Fla.

  The purpose of this study is to evaluate the proposed risks and benefits of predictive genomic sequencing, including short-and long-term impacts on:

  (i) health-related outcomes;
  (ii) healthcare utilization;
  (iii) psychosocial impact, and
  (iv) physician acceptance.