Healthier World with Quest Diagnostics

40 - Unlocking answers faster with whole exome sequencing (17 min)

Whole exome sequencing (WES) is transforming the way genetic testing has moved from a research tool to an increasingly important first-line diagnostic test for many patients. In this episode, Rebecca Johnson Wheeler, MS, CGC and Steve Keiles, MS, CGC discuss how advances in WES, growing insurance coverage, and expanding clinical applications are helping patients get answers faster while improving targeted treatment and care.
This episode will
Review current trends and guidelines driving increased adoption of whole exome sequencing in clinical practice (3:20)
Discuss the potential benefits and limitations of whole exome sequencing including the important components of the test (4:55)
Explain how the clinical interpretation of WES may change over time upon reevaluation as new patient information becomes available (8:15)
Evaluate how genetic expertise can support clinicians throughout the testing and interpretation process (13:30)
Date: June 2026
Speaker(s): Rebecca Johnson Wheeler, MS, CGC; Steve Keiles, MS, CGC
Contributor(s): Rebecca Johnson Wheeler, MS, CGC; Steve Keiles, MS, CGC; Maeson Latsko, PhD; Meenakshi Mahey Kumar, MS, CGC; Whitney Dodge, MS, CGC; Emily Partack, MS, CGC
 
Additional resources:
Test information: https://www.questdiagnostics.com/healthcare-professionals/about-our-tests/genetics/exome
Blog: https://www.questdiagnostics.com/our-company/actions-insights/2026-blogs/considering-mitochondrial-genomes-in-whole-exome-testing
Ordering information:
Whole Exome | Test Detail | Quest Diagnostics
Whole Exome Family Trio | Test Detail | Quest Diagnostics
Whole Exome Family Duo | Test Detail | Quest Diagnostics
References:
Reinholdt L, Chesler E, Pera M, Rosenthal N. The rare-to-common disease journey: a winding road to new therapies. Trends Genet. 2025;41(9):762-773. doi:10.1016/j.tig.2025.05.003
Manickam K, McClain MR, Demmer LA, et al. Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2021;23(11):2029-2037. doi:10.1038/s41436-021-01242-6
Smith L, Malinowski J, Ceulemans S, et al. Genetic testing and counseling for the unexplained epilepsies: an evidence-based practice guideline of the National Society of Genetic Counselors. J Genet Couns. 2023;32(2):266-280. doi:10.1002/jgc4.1646
Rodan LH, Stoler J, Chen E, Geleske T; Council on Genetics. Genetic evaluation of the child with intellectual disability or global developmental delay: clinical report. Pediatrics. 2025;156(1):e2025072219. doi:10.1542/peds.2025-072219
LJ, Minoche AE, Schofield D, et al. Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis. Eur J Hum Genet. 2022;30(10):1121-1131. doi:10.1038/s41431-022-01162-2
van de Kamp JM, Betsalel OT, Mercimek-Mahmutoglu S, et al. Phenotype and genotype in 101 males with X-linked creatine transporter deficiency. J Med Genet. 2013;50(7):463-472. doi:10.1136/jmedgenet-2013-101658
Dunbar M, Jaggumantri S, Sargent M, Stockler-Ipsiroglu S, van Karnebeek CD. Treatment of X-linked creatine transporter (SLC6A8) deficiency: systematic review of the literature and three new cases. Mol Genet Metab. 2014;112(4):259-274. doi:10.1016/j.ymgme.2014.05.011

39 - Instant insights: How to screen for primary aldosteronism (updated guidelines) (9 min)

In this special episode of Healthier World designed to give you Instant Insights, we take a look at primary aldosteronism (PA)- an often underdiagnosed, yet prevalent cause of hypertension. In this episode, we challenge traditional screening methods and introduce a streamlined diagnostic approach. By recognizing the signs of Primary Aldosteronism earlier, providers can improve patient outcomes and avoid increased risk for cardiovascular and metabolic conditions associated with untreated PA.
This episode will
Explain the mechanisms underlying PA and how they disrupt the normal renin-aldosterone feedback system (1:50)
Highlight the limitations of historic methodology, and describe updated guidance on PA evaluation (3:10)
Walk through an example comparing the ARR with the suppressed renin approach for assessing PA (5:50)
Explain the cardiometabolic consequences of untreated PA and the importance of proactive screening, particularly in patients with chronic kidney disease (6:50)
 
The content was current as of the time of recording. To learn more, please review the additional resources below for information on our cardiovascular, metabolic, endocrine, and wellness offerings as well as educational resources and insights from our team of experts. At Quest Diagnostics, we are committed to providing you with results and insights to support your clinical decisions.
Date: 6/2025
Speaker(s): Maeson Latsko, PhD
Contributor(s): Maeson Latsko, PhD; Trisha Winchester, PhD; Millicent Kee, MSN, FNP-BC; Akhil Singh; Smruti Sheth, Marco Marcelli, MD
Additional Resources:
https://www.questdiagnostics.com/healthcare-professionals/about-our-tests/endocrine-disorders/primary-aldosteronism
Ordering information:
Plasma Renin Activity with Reflex to Aldosterone | Test Detail | Quest Diagnostics
 
References:
Adler GK, Stowasser M, Correa RR, et al. Primary Aldosteronism: An Endocrine Society Clinical Practice Guideline. J Clin Endocrinol Metab. 2025;110(9):2453-2495. doi:10.1210/clinem/dgaf284
 
Writing Committee Members*, Jones DW, Ferdinand KC, et al. 2025 AHA/ACC/AANP/AAPA/ABC/ACCP/ACPM/AGS/AMA/ASPC/NMA/PCNA/SGIM Guideline for the Prevention, Detection, Evaluation and Management of High Blood Pressure in Adults: A Report of the American College of Cardiology/American Heart Association Joint Committee on Clinical Practice Guidelines. Hypertension. 2025;82(10):e212-e316. doi:10.1161/HYP.0000000000000249
 
Marcelli M, Bi C, Funder JW, McPhaul MJ. Comparing ARR Versus Suppressed PRA as Screening Tests for Primary Aldosteronism. Hypertension. 2024;81(10):2072-2081. doi:10.1161/HYPERTENSIONAHA.124.22884
 
Dogra P, Bancos I, Young WF Jr. Primary Aldosteronism: A Pragmatic Approach to Diagnosis and Management. Mayo Clin Proc. 2023;98(8):1207-1215. doi:10.1016/j.mayocp.2023.04.023

38 - Instant insights: Using ANAlyzeR to navigate systemic autoimmune disease (6 min)

Millions of people with systemic autoimmune diseases face a long and frustrating journey to diagnosis, often lasting years. In this episode, Dr Maeson Latsko explores how to expand on the standard antinuclear antibody (ANA) test for autoimmune disease. While the ANA test is a critical starting point, a negative result doesn't rule out disease, and a positive result is not a definitive diagnosis. The ANAlyzeR™ panel is a comprehensive test that evaluates 25 autoimmune markers from a single blood draw. This approach provides a full-picture view from the outset, helping clinicians differentiate between 8 common autoimmune conditions, reduce diagnostic uncertainty, and get patients on the path to treatment sooner.
Learning Objectives
This episode will:
Describe the challenges and delays in the typical diagnostic journey for patients with systemic autoimmune diseases (1:00)
Explain the role of the ANA test as a first-line screening tool (2:00)
Introduce the ANAlyzeR™ comprehensive panel as a solution to shorten the diagnostic process by simultaneously evaluating 25 analytes, to identify 8 common autoimmune conditions, regardless of the initial ANA result (3:55)
Additional resources
ANAlyzeR™ Test Summary: https://testdirectory.questdiagnostics.com/test/test-detail/36378/analyzer-ana-ifa-with-reflex-titerpattern-systemic-autoimmune-panel-1
ANAlyzeR™ Data Analysis Review Guide: DiagnoseAutoimmune.com
Quest Diagnostics Clinical Education Center: https://www.questdiagnostics.com/healthcare-professionals/clinical-education-center
 
References
Liu X, Patel AB, Seidel JE, et al. Traveling towards timeliness: the association between geographic access and wait times for rheumatology consultation in a centralized referral system. Healthcare (Basel). 2025;13(19):2533. doi:10.3390/healthcare13192533
Mechleb K, Hmamouchi I, Abdulateef N, et al. Exploring diagnostic timelines: a cross-sectional study of referral and diagnostic delays of patients with chronic inflammatory rheumatic diseases. Arab J Rheumatol. 2025;3:5-13. doi:10.4103/ajr.ajr_17_24
Autoimmune Association. Tips for getting a diagnosis of an autoimmune disease. Accessed February 24, 2026. https://autoimmune.org/resource-center/diagnosis-tips/
Data on file. Quest Diagnostics; 2026.
Lockshin ME, Levine AB, Erkan D. Patients with overlap autoimmune disease differ from those with 'pure' disease. Lupus Sci Med. 2015;2:e000084. doi:10.1136/lupus-2015-000084
Icen M, Nicola PJ, Maradit-Kremers H, et al. Systemic lupus erythematosus features in rheumatoid arthritis and their impact on overall mortality. J Rheumatol. 2009;36(1):50-57. doi:10.3899/jrheum.080091
Aringer M, Costenbader K, Daikh D, et al. 2019 European League Against Rheumatism/American College of Rheumatology classification criteria for systemic lupus erythematosus. Ann Rheum Dis. 2019;78(9):1151-1159.
Petri M, Orbai AM, Alarcón GS, et al. Derivation and validation of the Systemic Lupus International Collaborating Clinics classification criteria for systemic lupus erythematosus. Arthritis Rheum. 2012;64(8):2677-2686.
Aletaha D, Neogi T, Silman AJ, et al. 2010 rheumatoid arthritis classification criteria: an American College of Rheumatology/European League Against Rheumatism collaborative initiative. Arthritis Rheum. 2010;62(9):2569-2581. doi:10.1002/art.27584

37 - Instant insights: Whole exome sequencing for rare disease (8 min)

The diagnostic landscape for rare disease is being reshaped by whole exome sequencing, which is increasingly used as a first-line test for cases involving unexplained developmental delay, epilepsy, or multisystem disease. In this episode, Rebecca Johnson Wheeler, MS, CGC, explores how whole exome sequencing and Quest Diagnostics genetic experts are transforming rare disease diagnosis by enabling earlier answers, reducing unnecessary testing, and improving care for patients and families.
This episode will
Describe whole exome sequencing in rare disease (1:40)
Review clinical indications and guidelines for whole exome sequencing, including the available test options (3:25)
Explain the role of genetic counselors in supporting rare disease and whole exome sequencing (5:50)
 
Date: May 2026
Speaker(s): Rebecca Johnson Wheeler, MS, CGC
Contributor(s): Rebecca Johnson Wheeler, MS, CGC; Maeson Latsko, PhD; Meenakshi Mahey Kumar, MS, CGC; Natalie Cuttic; Whitney Dodge, MS, CGC; Khalida Liaquat, MS, CGC
 
Additional resources:
Quest Diagnostics Clinical Education Center [Link]
Test information: https://www.questdiagnostics.com/healthcare-professionals/about-our-tests/genetics/exome
Blog: https://www.questdiagnostics.com/our-company/actions-insights/2026-blogs/considering-mitochondrial-genomes-in-whole-exome-testing
Ordering information:
Whole Exome | Test Detail | Quest Diagnostics
Whole Exome Family Trio | Test Detail | Quest Diagnostics
Whole Exome Family Duo | Test Detail | Quest Diagnostics
References:
Reinholdt L, Chesler E, Pera M, Rosenthal N. The rare-to-common disease journey: a winding road to new therapies. Trends Genet. 2025;41(9):762-773. doi:10.1016/j.tig.2025.05.003
Manickam K, McClain MR, Demmer LA, et al. Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2021;23(11):2029-2037. doi:10.1038/s41436-021-01242-6
Smith L, Malinowski J, Ceulemans S, et al. Genetic testing and counseling for the unexplained epilepsies: An evidence-based practice guideline of the National Society of Genetic Counselors. J Genet Couns. 2023;32(2):266-280. doi:10.1002/jgc4.1646
Rodan LH, Stoler J, Chen E, Geleske T; Council on Genetics . Genetic Evaluation of the Child With Intellectual Disability or Global Developmental Delay: Clinical Report. Pediatrics. 2025;156(1):e2025072219. doi:10.1542/peds.2025-072219Ewans
LJ, Minoche AE, Schofield D, et al. Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis. Eur J Hum Genet. 2022;30(10):1121-1131. doi:10.1038/s41431-022-01162-2
van de Kamp JM, Betsalel OT, Mercimek-Mahmutoglu S, et al. Phenotype and genotype in 101 males with X-linked creatine transporter deficiency. J Med Genet. 2013;50(7):463-472. doi:10.1136/jmedgenet-2013-101658
Dunbar M, Jaggumantri S, Sargent M, Stockler-Ipsiroglu S, van Karnebeek CD. Treatment of X-linked creatine transporter (SLC6A8) deficiency: systematic review of the literature and three new cases. Mol Genet Metab. 2014;112(4):259-274. doi:10.1016/j.ymgme.2014.05.011

36 - Instant insights: Identifying and diagnosing celiac disease (8 min)

More than 80% of patients with celiac disease remain undiagnosed or misdiagnosed. In this episode, Maeson Latsko, PhD, explores the reasons for the diagnostic odyssey in celiac disease, from the disease’s wide range of symptoms to common pitfalls in testing. Celiac disease triggers a specific autoimmune response where the body attacks its own small intestines after gluten exposure, leading to malabsorption and comorbid conditions. Providers can screen for celiac disease using a serologic panel that detects key autoantibodies like tTG-IgA and accounts for IgA deficiency.
This episode will
Describe the autoimmune mechanism in celiac disease, including the role of tissue transglutaminase (tTG) and the HLA-DQ2/DQ8 genetic predisposition (2:00)
Identify the key serologic markers used for diagnosis, including tTG-IgA, endomysial antibody (EMA), and the purpose of IgG-based backup tests for patients with IgA deficiency (2:40)
Outline the clinical pathway for diagnosis, from initial testing with an automated reflex panel to the role of gut biopsy and follow-up monitoring (5:10)
To learn more, please review the additional resources below for information on our cardiovascular, metabolic, endocrine, and wellness offerings as well as educational resources and insights from our team of experts. At Quest Diagnostics, we are committed to providing you with results and insights to support your clinical decisions.
Date: May 2026
Speaker(s):  Maeson Latsko, PhD
Contributor(s): Maeson Latsko, PhD; Frank Samarro; Adrienne Uzonyi; Aixa Santos; Trisha Winchester, PhD;
Additional Resources:
Quest Diagnostics Clinical Education Center [Link]
Celiac Disease Comprehensive Panel with Gliadin Antibody (IgG) | Test Detail | Quest Diagnostics
HLA Typing for Celiac Disease | Test Detail | Quest Diagnostics
Tissue Transglutaminase (tTG) Antibody (IgA) | Test Detail | Quest Diagnostics
IgA | Test Detail | Quest Diagnostics
Gliadin (Deamidated) Antibody (IgA) | Test Detail | Quest Diagnostics
References:    
Rubio-Tapia A, Hill ID, Kelly CP, Calderwood AH, Murray JA. ACG Clinical Guidelines: Diagnosis and Management of Celiac Disease. Am J Gastroenterol. 2013;108(5):656-676.
 
Fasano A, Catassi C. Celiac Disease. N Engl J Med. 2012;367(25):2419-2426.
 
Hill ID, Dirks MH, Liptak GS, et al. Guideline for the diagnosis and treatment of celiac disease in children: recommendations of the North American Society for Pediatric Gastroenterology, Hepatology and Nutrition. J Pediatr Gastroenterol Nutr. 2005;40(1):1-19.
 
Celiac Disease Foundation. Celiac Disease Facts and Figures. Accessed April 15, 2026.

35 - Instant insights: Hypercortisolism in difficult-to-control type 2 diabetes (8 min)

More than 36 million Americans are living with type 2 diabetes, and an estimated 30%-50% of patients remain uncontrolled. In this episode, Maeson Latsko, PhD, explores an under-recognized contributor to difficult-to-control diabetes: hypercortisolism. Hypercortisolism disrupts glucose metabolism and insulin function, leading to elevated HbA1c that isn’t as responsive to traditional treatment. Providers can screen for hypercortisolism using an overnight dexamethasone suppression test.
This episode will
Review the clinical characteristics of difficult-to-control diabetes and when hypercortisolism should be considered (1:00)
Explain how hypercortisolism contributes to type 2 diabetes (2:25)
Outline the clinical approach to screening for hypercortisolism (4:50)
To learn more, please review the additional resources below for information on our cardiovascular, metabolic, endocrine, and wellness offerings as well as educational resources and insights from our team of experts. At Quest Diagnostics, we are committed to providing you with results and insights to support your clinical decisions.
Date: April 2026
Speaker(s):  Maeson Latsko, PhD
Contributor(s): Maeson Latsko, PhD; Trisha Winchester, PhD; Gregory Buchan, PhD; Sanjay Dixit, MD
 
Additional Resources
Quest Diagnostics Clinical Education Center [Link]
 
Hypercortisolism in Difficult-To-Control Type II Diabetes | Quest Diagnostics
 
Ordering information:
Dexamethasone Suppression Test (DST), 1 Specimen | Test Detail | Quest Diagnostics
Dexamethasone | Test Detail | Quest Diagnostics

34 - Instant insights: HPV testing for cervical cancer screening (8 min)

Cervical cancer is the fourth most common cancer in women globally, and Human papilloma virus (HPV) causes nearly all cases. Laboratory screening can detect infection or abnormal cells early, so clinicians can intervene before cancer develops. Screening options include Pap testing, HPV testing, and co-testing, and guidelines recommendation different combinations of these tests based on age and clinical presentation.
This episode will
Explain what HPV testing is and why HPV drives nearly all cervical cancers (1:00)
Compare Pap testing, HPV testing, and co-testing (2:00)
Summarize guideline-based screening options by age (3:30)
To learn more, please review the additional resources below for information on our cardiovascular, metabolic, endocrine, and wellness offerings as well as educational resources and insights from our team of experts. At Quest Diagnostics, we are committed to providing you with results and insights to support your clinical decisions.
Date: March 2026
Speaker(s):  Maeson Latsko, PhD
Contributor(s): Maeson Latsko, PhD; Trisha Winchester, PhD, MBA; Pat Alagia, MD, MBA; Lisa Smith; Paula McCollem
 
Additional Resources
Quest Diagnostics Clinical Education Center [Link]
Quest Diagnostics Cervical Cancer Portfolio Brochure
ASCCP Management Guidelines Web Application
Ordering information:
ThinPrep Automated Test Code Aid
Age 21-29
Pap alone
ThinPrep® Automated Pap | Test Detail | Quest Diagnostics
Pap reflex to HPV DNA
ThinPrep® Automated Pap Reflex HPV DNA (16,18,Other High Risk) PCR,Cervical | Test Detail | Quest Diagnostics
Pap reflex to HPV mRNA
ThinPrep® Automated Pap with Reflex to HPV mRNA E6/E7 | Test Detail | Quest Diagnostics
 
Age 30-65
Pap and HPV DNA
ThinPrep® Automated Pap and HPV DNA (16, 18, Other High Risk) PCR, Cervical | Test Detail | Quest Diagnostics
Pap and HPV mRNA reflex to genotypes 16, 18/45
ThinPrep® Automated Pap and HPV mRNA E6/E7 with Reflex to HPV 16,18/45 | Test Detail | Quest Diagnostics
HPV Primary reflex to Pap
HPV DNA (16,18, Other High Risk), PCR with Reflex to ThinPrep® Automated Pap | Test Detail | Quest Diagnostics
HPV Self-Collection
HPV DNA (16, 18, Other High Risk), PCR, Vaginal Self-Collected | Test Detail | Quest Diagnostics
 

33 - Enhanced Laboratory Services for Nephrology Patients (18 min)

Chronic kidney disease (CKD) is a major healthcare crisis, impacting about 35 million people in the US. In this episode, Maeson Latsko, PhD and Ines Dahne discuss end-stage kidney disease management in a nephrology setting, and how Quest Diagnostics is providing continuity of care for patients across primary care, nephrology, dialysis, hospitals, and transplant settings.
This episode will
Explain the nephrologist’s role in managing complex CKD patients across clinics, dialysis centers, and hospitals (3:00)
Discuss how the strategic Fresenius–Quest Diagnostics partnership will ensure business and medical continuity for nephrologists and their patients (8:15)
Describe the frequency of lab monitoring in nephrology, and how this partnership will support broader testing and to help manage cardiometabolic and autoimmune comorbidities and reinforce prevention given low CKD awareness (14:40)
To learn more, please review the additional resources below for information on our cardiovascular, metabolic, endocrine, and wellness offerings as well as educational resources and insights from our team of experts. At Quest Diagnostics, we are committed to providing you with results and insights to support your clinical decisions.
Date: March 2026
Speaker(s):  Maeson Latsko, PhD; Ines Dahne
Contributor(s): Maeson Latsko, PhD; Ines Dahne; Trisha Winchester, PhD; Millicent Kee, MSN, FNP-BC; Rohit Joshi; Nathan Adamo; Mouris Saghir, PhD
 
Additional Resources
Quest Diagnostics Clinical Education Center [Link]
 
 

32 - Instant insights: Blood-based biomarkers for Alzheimer’s Disease (8 min)

Approximately 55 million people have dementia. Alzheimer’s disease (AD) is the most common form of dementia, impacting nearly 7 million Americans. Blood-based biomarkers such as the beta amyloid 42/40 ratio and phosphorylated tau (p-tau217) are now providing earlier and more accessible insights into Alzheimer's pathology. These markers help differentiate Alzheimer's from other dementias, support early intervention, and improve diagnostic confidence. The Quest Diagnostics panel combines these biomarkers to generate a highly accurate likelihood score for Alzheimer's pathology, enhancing clinical decision-making and care planning.
This episode will
Describe the pathology of AD (2:00)
Summarize the role of blood-based biomarkers in the evaluation of suspected AD (3:00)
Explain how biomarkers can support patient evaluation and help clinical decision-making (6:30)
To learn more, please review the additional resources below for information on our cardiovascular, metabolic, endocrine, and wellness offerings as well as educational resources and insights from our team of experts. At Quest Diagnostics, we are committed to providing you with results and insights to support your clinical decisions.
Date: March 2026
Speaker(s):  Maeson Latsko, PhD
Contributor(s): Maeson Latsko, PhD; Trisha Winchester, PhD; Amanda Backner; Kenneth French; Michael Prouse, PhD; Mouris Saghir, PhD; Matthew Stroh, PhD; Michael Racke, MD
 
Additional Resources
Quest Diagnostics Clinical Education Center [Link]
Test Summary: AD Detect
FAQ: AD Detect
Ordering information:
AD-Detect™ ABeta 42/40 and p-tau217 Evaluation, Plasma
 
References:    
Alzheimer's Association. Alzheimer’s Disease Facts and Figures. Alzheimer’s Disease and Dementia. Published 2025. https://www.alz.org/alzheimers-dementia/facts-figures
‌World Health Organization. Dementia. World Health Organization. Published March 31, 2025. https://www.who.int/news-room/fact-sheets/detail/dementia
Palmqvist S, Whitson HE, Allen LA, et al. Alzheimer's Association Clinical Practice Guideline on the use of blood-based biomarkers in the diagnostic workup of suspected Alzheimer's disease within specialized care settings. Alzheimers Dement. 2025;21(7):e70535. doi:10.1002/alz.70535

31 - Pharmacogenetics: How genes can influence prescribing (20 min)

Pharmacogenetics (PGx) testing is a field that can transform how clinicians select and dose medications by accounting for individual genetic variability in drug metabolism, transport, and response. In this episode, Maeson Latsko, PhD, and Kathleen O’Brien, CGC, DABMG, discuss the clinical utility of PGx testing and how providers can integrate it into routine care.
This episode will
Describe pharmacogenetics (PGx) testing (2:45)
Review different types of pharmacogenes and their clinical utility (12:15)
Walk through Quest Diagnostics PGx test offerings (16:30)
To learn more, please review the additional resources below for information on our cardiovascular, metabolic, endocrine, and wellness offerings as well as educational resources and insights from our team of experts. At Quest Diagnostics, we are committed to providing you with results and insights to support your clinical decisions.
Date: February 2026
Speaker(s):  Maeson Latsko, PhD; Kathleen O’Brien, CGC, DABMG
Contributor(s): Maeson Latsko, PhD; Kathleen O’Brien, CGC, DABMG; Rebecca Johnson, CGC; Trisha Winchester, PhD; Millicent Kee, MSN, FNP-BC
 
Additional Resources
Quest Diagnostics Clinical Education Center [Link]
Test summary: Pharmacogenomics
 
Ordering information:
Pharmacogenomics Panel with Coriell Life Sciences (CLS) Report | Test Detail | Quest Diagnostics
Pharmacogenomics Panel | Test Detail | Quest Diagnostics
References:    
Ingelman-Sundberg M. Pharmacogenetics: an opportunity for a safer and more efficient pharmacotherapy. Journal of Internal Medicine. 2001;250(3):186-200. doi:10.1046/j.1365-2796.2001.00879.x
 
Chanfreau-Coffinier C, Hull LE, Lynch JA, et al. Projected prevalence of actionable pharmacogenetic variants and level a drugs prescribed among US veterans health administration pharmacy users. JAMA Netw Open. 2019;2(6):e195345. doi:10.1001/jamanetworkopen.2019.5345
 
Swen JJ, van der Wouden CH, Manson LE, et al. A 12-gene pharmacogenetic panel to prevent adverse drug reactions: an open-label, multicentre, controlled, cluster-randomised crossover implementation study. Lancet (London, England). 2023;401(10374):347-356. Doi:10.1016/S0140-6736(22)01841-4
 
Bousman CA, Stevenson JM, Ramsey LB, et al. Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for CYP2D6, CYP2C19, CYP2B6, SLC6A4, and HTR2A Genotypes and Serotonin Reuptake Inhibitor Antidepressants. Clin Pharmacol Ther. 2023;114(1):51-68. doi:10.1002/cpt.2903
 
Johnson JA, Caudle KE, Gong L, et al. Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for Pharmacogenetics-Guided Warfarin Dosing: 2017 Update. Clin Pharmacol Ther. 2017;102(3):397-404. doi:10.1002/cpt.668
 
Oslin DW, Lynch KG, Shih MC, et al. Effect of Pharmacogenomic Testing for Drug-Gene Interactions on Medication Selection and Remission of Symptoms in Major Depressive Disorder: The PRIME Care Randomized Clinical Trial. JAMA. 2022;328(2):151-161. doi:10.1001/jama.2022.9805
Bradley P, Shiekh M, Mehra V, et al. Improved efficacy with targeted pharmacogenetic-guided treatment of patients with depression and anxiety: A randomized clinical trial demonstrating clinical utility. J Psychiatr Res. 2018;96:100-107. doi:10.1016/j.jpsychires.2017.09.024
Greden JF, Parikh SV, Rothschild AJ, et al. Impact of pharmacogenomics on clinical outcomes in major depressive disorder in the GUIDED trial: A large, patient- and rater-blinded, randomized, controlled study. J Psychiatr Res. 2019;111:59-67. doi:10.1016/j.jpsychires.2019.01.003
Swen JJ, van der Wouden CH, Manson LE, et al. A 12-gene pharmacogenetic panel to prevent adverse drug reactions: an open-label, multicentre, controlled, cluster-randomised crossover implementation study. Lancet. 2023;401(10374):347-356. doi:10.1016/S0140-6736(22)01841-4