Healthier World with Quest Diagnostics

Quest Diagnostics
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Healthier World with Quest Diagnostics aims to prompt action from insight as we keep you up to date on current clinical and diagnostic topics to transform lives and illuminate a path to better health.

  1. 5D AGO

    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

    8 min

  2. MAY 4

    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.

    8 min

  3. APR 13

    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

    8 min

  4. MAR 30

    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

    8 min

  5. MAR 16

    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]

    18 min

  6. MAR 2

    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

    8 min

  7. FEB 9

    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

    20 min

  8. JAN 26

    30 - Instant insights: hs-CRP in cardiovascular risk (7 min)

    In this special episode of Healthier World designed to give you Instant Insights, Dr Maeson Latsko discusses the critical role of inflammation in cardiovascular events, focusing on the importance of high-sensitivity C-reactive protein (hsCRP) levels. Cardiovascular events often stem from the rupture of soft plaque, which is fueled by inflammation. Hs-CRP can be used to gauge cardiovascular risk, above even when LDL-C is considered normal. Hs-CRP should be thought of as a red flag for chronic conditions that increase risk for CVD, such as metabolic syndrome, diabetes, and hypertension, emphasizing the importance of addressing inflammation to prevent heart attacks and strokes. This episode will Differentiate hs-CRP from general CRP levels in the context of acute and chronic inflammation (1:10) Introduce hs-CRP as a critical biomarker for assessing cardiovascular risk (1:50) Highlight the integration of hs-CRP into cardiovascular prevention guidelines (5:00) 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: 1/2026 Speaker(s):  Maeson Latsko, PhD Contributor(s): Maeson Latsko, PhD; Trisha Winchester, PhD; Millicent Kee, MSN, FNP-BC; Mouris Saghir, PhD    Additional Resources: Quest Diagnostics Clinical Education Center [Link] Test summary: hs-CRP Ordering information: Hs-CRP | Test Detail | Quest Diagnostics   References:   Ridker PM, Everett BM, Thuren T, et al. Antiinflammatory therapy with canakinumab for atherosclerotic disease. N Engl J Med. 2017;377 (12):1119-1131. doi:10.1056/NEJMoa1707914 Singh TP, Morris DR, Smith S, et al. Systematic review and meta-analysis of the association between C-reactive protein and major cardiovascular events in patients with peripheral artery disease. Eur J Vasc Endovasc Surg. 2017;54 (2):220-233. doi:10.1016/j.ejvs.2017.05.009 Jellinger PS, Handelsman Y, Rosenblit PD, et al. American Association of Clinical Endocrinologists and American College of Endocrinology guidelines for management of dyslipidemia and prevention of cardiovascular disease. Endocr Pract. 2017;23 (suppl 2):1-87. doi:10.4158/EP171764.APPGL US Preventive Services Task Force. Risk assessment for cardiovascular disease with nontraditional risk factors: US Preventive Services Task Force recommendation statement. JAMA. 2018;320 (3):272-280. doi:10.1001/jama.2018.8359 Grundy SM, Stone NJ, Bailey AL, et al. 2018 AHA/ACC/AACVPR/AAPA/ABC/ACPM/ ADA/AGS/APhA/ASPC/NLA/PCNA guideline on the management of blood cholesterol: a report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines. Circulation. 2019;139 (25):e1082-e1143. doi:10.1161/CIR.0000000000000625 Ridker PM, Bhatt DL, Pradhan AD, et al. Inflammation and cholesterol as predictors of cardiovascular events among patients receiving statin therapy: a collaborative analysis of three randomised trials. Lancet. 2023;401(10384):1293-1301. doi:10.1016/S0140-6736(23)00215-5 Alam M, Kontopantelis E, Mamas MA, et al. Meta-analysis of the effect of colchicine on C-reactive protein in patients with acute and chronic coronary syndromes. Coron Artery Dis. 2023;34(3):210-215. doi:10.1097/MCA.0000000000001220 Pearson TA, Mensah GA, Alexander RW, et al. Markers of inflammation and cardiovascular disease: application to clinical and public health practice: a statement for healthcare professionals from the Centers for Disease Control and Prevention and the American Heart Association. Circulation. 2003;107 (3):499-511. doi:10.1161/01.cir.0000052939.59093.45

    7 min
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Healthier World with Quest Diagnostics aims to prompt action from insight as we keep you up to date on current clinical and diagnostic topics to transform lives and illuminate a path to better health.

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