dna sequencing in clinical practice, mayo clinic health tapestry study

Conditions: Genetic Disorder

Summary: this clinical trial collects information on how sequencing a patient's deoxyribonucleic acid (dna) (i.e., the genetic material) could impact their health care. this study also develops and improves ways to include genomic information from dna sequencing into the electronic health record to create a more complete "health tapestry" for each participant. sequencing of a patient's dna leads to the detection of genetic variants some of which determine risk for disease development. discovery of those genetic variants in a patient could result in prevention, earlier diagnosis or better therapy of disease.

primary objectives: i. to detect and compare the actionable genetic findings derived from whole exome sequencing (wes) testing and examine their frequency and association with family history using a large cohort of patients seen across specialties within the mayo clinic enterprise. ii. to assess the effect of actionable genetic findings of patients on health-care utilization, and patients acceptance. iii. to create a unique vertically integrated data asset (mayo clinic health tapestry) that links genomics and other omics information to traditional health parameters in the electronic medical record (emr) with the aim to elucidate disease formation and outcomes. iv. assess the frequency of hereditary cancer predisposition genes (brca1, brca2, lynch syndrome mismatch repair \[mmr\] genes) through population screening using wes and the uptake of genetic counseling. v. to study the genetic predisposition to coronavirus disease 2019 (covid-19) disease we propose using a covid-19 survey. vi. assess the recruitment rate of those approached by portal and email. vii. assess differential consent rates by combinations of mode of invitation (initial contact via email or patient portal) and content of material (standard invitation content vs. enhanced content with improved language and visual display) in one cohort. outline: participants receive a saliva kit, register with helix then undergo collection of saliva sample which is returned o helix. participants also receive an online link to complete the about me family history. once sequencing is completed by helix, ancestry/trait information and genetic findings are shared with participants and their primary provider, if applicable. participants with positive results are offered genetic counseling and are encouraged to seek clinical confirmatory testing. following clinical confirmation, results are scanned into the electronic health record. participants may also undergo the collection of blood, urine, and stool samples for future studies.

Eligibility criteria:
inclusion criteria: * age \>= 18 years * registered mayo clinic patient * able to provide informed written consent * e-mail and web access (for electronic consent, video education, registering with helix and receiving results) * ability to collect and ship saliva sample within the united states * of note: women, who are pregnant, or planning to become pregnant, can take part in this study. however, this study does not replace prenatal genetic testing. if participants have these concerns, they will be encouraged to contact their obstetrics (ob) provider or a genetic counselor to discuss further exclusion criteria: * other co-morbidity which would in physician's opinion interferes with patient's ability to participate in the study (eg: reduced ability to comprehend eg: dementia, intellectual disability, fluency in consent language) * allogeneic bone marrow transplant (e.g. samples from autologous bone marrow transplant recipients are acceptable if collected at least one month after transplant) * active hematological cancer or history of a hematological cancer * resident of the state of new york * the helix lab does not currently have new york state licensure * residents without a shipping address in the united states * the helix lab is unable to ship and receive samples internationally