Genetic Testing for Surgery

Overseen By Cancer Clinical Trials Office

Age: 18+

Sex: Any

Trial Phase: Academic

Sponsor: University of Chicago

Disqualifiers: Liver transplant, Kidney transplant, Leukemia

No Placebo Group All trial participants will receive the active study treatment (no placebo)

Compensation: Varies

Number of Visits: 1

1900 Participants Needed

Trial Summary

Will I have to stop taking my current medications?

The trial information does not specify whether you need to stop taking your current medications. It might be best to discuss this with the trial coordinators or your healthcare provider.

What data supports the effectiveness of genetic testing as a treatment for surgery?

Genetic testing helps identify patients with inherited genetic mutations, allowing for tailored preventive care and treatment, which can be beneficial in surgical settings. Surgeons can use genetic information to make informed decisions about patient care, potentially improving outcomes. ^{1 2 3 4 5}

Is genetic testing for surgery safe for humans?

Research on elective surgeries shows that while complications can occur, most are mild and severe complications are rare. This suggests that the procedures, including any associated genetic testing, are generally safe for humans. ^{6 7 8 9 10}

How is the treatment 'Routine Elective Surgery' unique compared to other treatments for this condition?

Routine elective surgery is unique because it involves planned surgical procedures that are not emergencies, allowing for preoperative evaluations and testing to ensure patient safety. Unlike other treatments that might be immediate or non-surgical, elective surgeries are scheduled in advance, providing time for thorough preparation and risk assessment. ^{11 12 13 14 15}

What is the purpose of this trial?

The study is enrolling adults who are scheduled for either inpatient or outpatient elective surgical procedures at The University of Chicago. At pre-operative visits, patients will be consented and a blood sample will be obtained for preemptive genotyping across a panel of actionable germline variants predicting drug response or toxicity risk. Genotyping results will be delivered to participating providers as patient-specific drug-gene clinical decision support summaries using a secured Web portal, the Genomic Prescribing System (GPS). Participating anesthesiologists and critical care and pain management physicians and associated providers from the Department of Anesthesia and Critical Care at the University of Chicago will be invited to receive results for their participating patients. There will be an initial 6- month "run-in" period of the study comprised of approximately 100 enrolled adults in which all patients will have pharmacogenomic results made available to providers. The run-in period will allow for process refinement and GPS delivery to be examined and optimized prior to the randomized phase After the initial run-in period, patients will be randomized to one of two arms - in the pharmacogenomic arm, providers will have access to GPS and pharmacogenomic information, whereas in the control arm, providers will not have access to GPS and patient-specific pharmacogenomic information (current standard of care).

Research Team

Peter O'Donnell, MD

Principal Investigator

University of Chicago

Eligibility Criteria

Adults over 18 years old who are scheduled for elective surgery at the University of Chicago can join. They must be able to understand and agree to participate. People with past or active leukemia, or those considered for liver or kidney transplants cannot join.

Inclusion Criteria

I am an adult scheduled for surgery at the University of Chicago.

Exclusion Criteria

I have or had leukemia.

I am being considered for, or have had, a liver or kidney transplant.

I understand the study and can give my consent.

Timeline

Screening

Participants are screened for eligibility to participate in the trial

2-4 weeks

Pre-operative

Patients are consented and a blood sample is obtained for preemptive genotyping

1 visit

1 visit (in-person)

Run-in

Initial 6-month period where pharmacogenomic results are made available to providers for process refinement

6 months

Randomized Treatment

Patients are randomized to either the pharmacogenomic arm or control arm for perioperative care

5 years

Follow-up

Participants are monitored for safety and effectiveness after treatment

5 years

Treatment Details

Interventions

• Blood test for genetic testing
• Drug-genetic Profile
• Routine Elective Surgery

Trial Overview The trial is testing if using a blood test to check how patients' genes affect their reaction to drugs (pharmacogenomics) before surgery can help doctors choose better medications. Initially, all will get this test, then they'll be randomly split into two groups: one where doctors see these genetics results and one where they don't.

Participant Groups

Group I: Pharmacogenomic (PGx) Arm [Randomization Arm 1] Experimental Treatment 3 Interventions

All patients will undergo preemptive genotyping prior to their surgical procedure, and all patients will have pharmacogenomic results made available to providers.

Group II: Pain Cohort Experimental Treatment 3 Interventions

Patients with a post-operative pain consult will be included in a pain sub-analysis to assess pain scores, pain therapy administration, and rate of opioid-induced adverse events.

Group III: Control Arm [Randomization Arm 2] Experimental Treatment 2 Interventions

All patients will undergo preemptive genotyping prior to their surgical procedure. Pharmacogenomic test results will not be made available to providers (standard of care). Genotyping results will be released to study providers (and patients) at the 6-month unblinding timepoint for patients in the control group.

Who Is Running the Clinical Trial?

University of Chicago

Lead Sponsor

Trials

1,086

Recruited

844,000+

Findings from Research

Patients who underwent prophylactic breast surgery reported overall postoperative satisfaction levels similar to those of the general population, with average scores of 56.06 for breast satisfaction and 66.94 for psychosocial well-being.

However, there was a significant difference in sexual well-being, with a lower satisfaction score of 50, indicating that this aspect may require more attention in preoperative counseling and support.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

[Satisfaction after risk reducing mastectomy related to breast reconstruction surgery in patient with hereditary genetic mutation]. Manivit, C., Dannepond, A., Brun, JL., et al.[2022]

Before genetic counseling, 23.3% of women were considering risk-reducing mastectomy (RRM) and 42.5% were considering risk-reducing oophorectomy (RRO), indicating a significant interest in preventive surgery among those at risk for BRCA1/2 mutations.

Factors influencing the intention to undergo RRM included cancer-specific distress and perceived risk of breast cancer, while intentions for RRO were associated with perceived risk of ovarian cancer and marital status, highlighting the importance of addressing these concerns during pretest genetic counseling.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Intentions for risk-reducing surgery among high-risk women referred for BRCA1/BRCA2 genetic counseling. Tong, A., Kelly, S., Nusbaum, R., et al.[2021]

Genetic testing for cancer-related mutations is becoming more accessible in general healthcare, moving beyond specialized genetic services.

Surgeons play a crucial role in identifying patients who may benefit from genetic testing and can adjust their treatment plans based on the test results, enhancing personalized cancer care.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Genetic testing for cancer susceptibility. Calzone, KA., Soballe, PW.[2018]

Up to 10% of all cancers are linked to inherited genetic mutations, highlighting the importance of genetic testing in identifying individuals at high risk for cancer.

General surgeons play a crucial role in integrating genetic testing into patient care, enabling them to offer appropriate preventive measures and treatments for patients and their families.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Cancer Genetics. Van Cott, C.[2020]

Utilizing genetic information in medical decision-making can significantly enhance personalized treatment approaches, particularly in surgical oncology.

Ethical considerations are crucial when implementing genetic testing, including informed consent, confidentiality, and the implications of targeted therapies and prophylactic surgeries.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Ethics and genomic medicine, how to navigate decisions in surgical oncology. Devon, KM., Lerner-Ellis, JP., Ganai, S., et al.[2015]

In a study of 177,533 elective surgery patients in Victoria, 15.5% experienced at least one complication, with the most common being haemorrhage, highlighting the need for improved patient safety measures.

Certain procedures, such as coronary artery bypass surgery and colectomy, were identified as having higher rates of adverse events, indicating that hospitals should monitor these specific surgeries closely to enhance safety protocols.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Adverse events in Victorian admissions for elective surgery. Moje, C., Jackson, TJ., McNair, P.[2019]

A new risk assessment procedure was tested on 1361 elective surgery patients, revealing that about 30% experienced complications post-operation, with most being mild and severe complications being rare.

Three different risk assessment classifications were evaluated, all showing reasonable effectiveness in estimating surgical risks, indicating a need for further research to refine these assessments and improve patient safety.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Perioperative risk assessment. The Project Perioperative Risk (PROPER). Svärdsudd, K., Arvidsson, S., Ouchterlony, J., et al.[2019]

In a review of outpatient surgeries from 2012 to 2015 involving 2,257 cases, adverse events (AEs) were found in 51% of high-likelihood and 12% of low-likelihood procedures, indicating a significant risk of complications even in outpatient settings.

Among the identified AEs, 10% required repeat surgeries, and 28% led to hospitalization, highlighting the need for quality improvement efforts to address common issues like wound problems and urinary retention.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

The Nature and Severity of Adverse Events in Select Outpatient Surgical Procedures in the Veterans Health Administration. Mull, HJ., Itani, KMF., Charns, MP., et al.[2021]

The Trigger Tool (TT) identified 89.9% of adverse events (AEs) in patients undergoing general surgery, compared to only 28.48% detected by the Minimum Basic Data Set (MBDS), highlighting TT's superior effectiveness in AE detection.

The study found a high prevalence of AEs at 36.8% among surgical patients, indicating that the risk of complications in general surgery may be greater than previously estimated.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

[Comparison of the "Trigger" tool with the minimum basic data set for detecting adverse events in general surgery]. Pérez Zapata, AI., Gutiérrez Samaniego, M., Rodríguez Cuéllar, E., et al.[2018]

In a study analyzing 6,029 patient claims after orthopedic surgery in Sweden, 55% were identified as adverse events, with hospital-acquired infections and sepsis being the most common, accounting for 22% of these events.

Spinal surgeries, particularly decompression of the spinal cord and nerve roots, had the highest rate of adverse events, with 21.4% of affected patients experiencing serious disability or death, highlighting the significant risks associated with these procedures.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

What can we learn from patient claims? - A retrospective analysis of incidence and patterns of adverse events after orthopaedic procedures in Sweden. Ohrn, A., Elfström, J., Tropp, H., et al.[2021]

A survey of 685 anesthesiologists revealed that despite evidence suggesting no significant benefits, many still routinely order preoperative tests like hemoglobin (Hb) testing in 27% to 48% of healthy children undergoing elective surgery.

Only 15% of children had urine analysis ordered, and 43% of anesthesiologists performed pregnancy tests in adolescents, indicating a lack of consensus on necessary preoperative testing for this population.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Preoperative laboratory testing in children undergoing elective surgery: analysis of current practice. Patel, RI., DeWitt, L., Hannallah, RS.[2019]

Routine preoperative testing for all patients undergoing elective surgery is not justified due to the low frequency of unexpected abnormalities that would change patient management.

There is insufficient evidence linking abnormal test results to increased perioperative complications, suggesting that selective testing may be more appropriate.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Preoperative laboratory testing: should any tests be "routine" before surgery? Macpherson, DS.[2019]

Routine pre-operative COVID-19 testing in asymptomatic patients undergoing elective surgery identified positive cases in only 0.41% of tests, suggesting low prevalence of silent infections in this population.

The cost-effectiveness of universal testing is questionable, as it required testing 244 patients to find one positive case, leading to significant costs (approximately $11,573 per positive result), indicating that risk and symptom-based testing may be a more efficient approach.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Diagnostic yield and costs associated with a routine pre-operative COVID-19 testing algorithm for asymptomatic patients prior to elective surgery. Mawhorter, ME., Nguyen, P., Goldsmith, M., et al.[2022]

A study analyzing preoperative testing patterns in healthy patients revealed that red cell counts were the most commonly requested test (86%), while urine tests and spirometry were the least requested, indicating a focus on blood-related assessments.

There was significant variability in the ordering of preoperative tests among different hospitals and anesthesiologists, suggesting a lack of standardization in testing protocols for asymptomatic patients undergoing elective surgery.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

[Preoperative testing routines for healthy, asymptomatic patients in the Canary Islands (Spain)]. Serrano Aguilar, P., López Bastida, J., Duque González, B., et al.[2018]

Routine laboratory and diagnostic testing before elective gynecological surgery is largely unnecessary, as it often yields high rates of abnormal results that do not significantly impact surgical planning or outcomes.

A thorough history and physical examination should be prioritized over routine tests, and implementing a protocol for targeted preoperative testing can reduce unnecessary procedures while maintaining patient safety and care quality.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Preoperative evaluation for gynecologic surgery: a guide to judicious, evidence-based testing. Shields, J., Lupo, A., Walsh, T., et al.[2019]

References

1. France pubmed.ncbi.nlm.nih.gov

[Satisfaction after risk reducing mastectomy related to breast reconstruction surgery in patient with hereditary genetic mutation]. [2022]

2. England pubmed.ncbi.nlm.nih.gov

Intentions for risk-reducing surgery among high-risk women referred for BRCA1/BRCA2 genetic counseling. [2021]

3. United States pubmed.ncbi.nlm.nih.gov

Genetic testing for cancer susceptibility. [2018]

4. United States pubmed.ncbi.nlm.nih.gov

Cancer Genetics. [2020]

5. United States pubmed.ncbi.nlm.nih.gov

Ethics and genomic medicine, how to navigate decisions in surgical oncology. [2015]

6. Australia pubmed.ncbi.nlm.nih.gov

Adverse events in Victorian admissions for elective surgery. [2019]

7. England pubmed.ncbi.nlm.nih.gov

Perioperative risk assessment. The Project Perioperative Risk (PROPER). [2019]

8. United States pubmed.ncbi.nlm.nih.gov

The Nature and Severity of Adverse Events in Select Outpatient Surgical Procedures in the Veterans Health Administration. [2021]

9. Spain pubmed.ncbi.nlm.nih.gov

[Comparison of the "Trigger" tool with the minimum basic data set for detecting adverse events in general surgery]. [2018]

10. England pubmed.ncbi.nlm.nih.gov

What can we learn from patient claims? - A retrospective analysis of incidence and patterns of adverse events after orthopaedic procedures in Sweden. [2021]

11. United States pubmed.ncbi.nlm.nih.gov

Preoperative laboratory testing in children undergoing elective surgery: analysis of current practice. [2019]

12. United States pubmed.ncbi.nlm.nih.gov

Preoperative laboratory testing: should any tests be "routine" before surgery? [2019]

13. United States pubmed.ncbi.nlm.nih.gov

Diagnostic yield and costs associated with a routine pre-operative COVID-19 testing algorithm for asymptomatic patients prior to elective surgery. [2022]

14. Spain pubmed.ncbi.nlm.nih.gov

[Preoperative testing routines for healthy, asymptomatic patients in the Canary Islands (Spain)]. [2018]

15. England pubmed.ncbi.nlm.nih.gov

Preoperative evaluation for gynecologic surgery: a guide to judicious, evidence-based testing. [2019]