Healthier World with Quest Diagnostics

Episode summary Minimal residual disease (MRD) testing is an emerging tool in precision oncology that can provide insights beyond traditional imaging and clinical assessment. In this episode, Rebecca Johnson Wheeler, MS, CGC, and Dr CK Wang explore how circulating tumor DNA (ctDNA) can be used to detect residual disease and discuss how MRD results may help inform recurrence risk, treatment response, and disease surveillance and explore the growing role of MRD testing in cancer care. This episode will Define minimal residual disease and describe how circulating tumor DNA (ctDNA) can be used to detect evidence of cancer that may remain after treatment  (4:08) Differentiate tumor-informed and tumor agnostic MRD approaches to testing, and what to consider when selecting an MRD test. (5:57) Explain the clinical significance of MRD results and its clinical utility in muscle invasive bladder cancer care through a case example (9:36) Recognize current and emerging clinical applications of MRD testing (16:00) Date: November 2026 Speaker(s): Rebecca Johnson Wheeler, MS, CGC; CK Wang, MD Contributor(s): Rebecca Johnson Wheeler, MS, CGC; CK Wang, MD; Jared Snider, PhD; Mark Reed, PhD   Additional resources: Quest Diagnostics Clinical Education Center Haystack MRD Ordering information: Contact to order Haystack MRD baseline References: National Comprehensive Cancer Network®. Bladder Cancer (Version 3.2026). Published August 2026. Accessed October 2, 2026. https://www.nccn.org Tie J, Wang Y, Lo SN, et al. Circulating tumor DNA analysis guiding adjuvant therapy in stage II colon cancer: 5-year outcomes of the randomized DYNAMIC trial. Nat Med. 2025;31(5):1509-1518. doi:10.1038/s41591-025-03579-w Tie J, Cohen JD, Lahouel K, et al. Circulating tumor DNA Analysis guiding adjuvant therapy in stage II colon cancer. N Engl J Med. 2022;386(24):2261-2272. doi:10.1056/NEJMoa2200075 Powles T, Kann AG, Castellano D, et al. ctDNA-guided adjuvant atezolizumab in muscle-invasive bladder cancer. N Engl J Med. 2025;393(24):2395-2408. doi:10.1056/NEJMoa2511885 Zhou H, Zhu L, Song J, et al. Liquid biopsy at the frontier of detection, prognosis and progression monitoring in colorectal cancer. Mol Cancer. 2022;21(1):86. doi:10.1186/s12943-022-01556-2  

Cognitive decline is not an isolated brain disease but is deeply intertwined with systemic vascular and metabolic health. In this episode, Maeson Latsko, PhD, is joined by cardiologist Dr Marc Penn and neurologist Dr Michael Racke to break down the physiological links between cardiometabolic conditions and dementia. They discuss why primary care providers are the frontline defense in preventing cognitive decline, outlining a practical, 5-pillar diagnostic framework to identify at-risk patients. The conversation covers the clinical gaps in current screening, the utility of ruling out secondary causes of dementia, and how advanced Alzheimer's biomarkers can streamline specialist referrals and enable earlier intervention. This episode will Examine how cardiometabolic diseases like diabetes and hypertension contribute to neurodegeneration and cognitive decline (1:40) Detail a 5-pillar framework for a comprehensive cognitive assessment that addresses nutritional, thyroid, inflammatory, metabolic, and circulatory health (8:20) Discuss the role of advanced blood-based biomarkers for both identifying secondary causes of dementia and confirming Alzheimer's disease pathology (14:40)   Speakers:  Maeson Latsko, PhD; Michael Racke, MD; Marc Penn, MD, PhD Contributors: Maeson Latsko, PhD; Michael Racke, MD; Marc Penn, MD, PhD; Natalie Cuttic; Kathryn Morales; Trisha Winchester, PhD, MBA; Millicent Kee, MSN, APRN, FNP-BC; Rebecca Johnson Wheeler, MS, CGC   Ordering information Cognitive Assessment Panel AD-Detect™ ABeta 42/40 and p-tau217 Evaluation, Plasma Additional resources Podcast - Empowering primary care in the new era of Alzheimer’s disease diagnostics (25 min) Podcast - Instant insights: Blood-based biomarkers for Alzheimer’s Disease (8 min) Podcast - The Cardiometabolic approach: A solution to modern disease risk assessment (20 min) References Centers for Medicare & Medicaid Services. Cognitive assessment & care plan services. Medicare.gov. Accessed September 22, 2026. https://www.medicare.gov/coverage/cognitive-assessment-care-plan-services Nasreddine ZS, Phillips NA, Bédirian V, et al. The Montreal Cognitive Assessment, MoCA: a brief screening tool for mild cognitive impairment. J Am Geriatr Soc. 2005;53(4):695-699. doi:10.1111/j.1532-5415.2005.53221.x Cummings J, Aisen P, Apostolova LG, Atri A, Salloway S, Weiner M. Aducanumab: appropriate use recommendations. J Prev Alzheimers Dis. 2021;8(4):398-410. doi:10.14283/jpad.2021.41 Jack CR Jr, Bennett DA, Blennow K, et al. NIA-AA Research Framework: toward a biological definition of Alzheimer's disease. Alzheimers Dement. 2018;14(4):535-562. doi:10.1016/j.jalz.2018.02.018 Gottesman RF, Stern Y, Provencio-Dean N, et al. The American Heart Association’s seven core metrics of cardiovascular health (Life’s Simple 7) and cognitive health. Stroke. 2017;48(5):1414-1421. doi:10.1161/STROKEAHA.116.015093 Atri A, Dickerson BC, Clevenger C, et al. Alzheimer's Association Clinical Practice Guideline for the Diagnostic Evaluation, Testing, Counseling, and Disclosure of Suspected Alzheimer's Disease and Related Disorders (DETeCD-ADRD): executive summary of recommendations for primary care. Alzheimers Dement. 2025;21(6):e14333. doi:10.1002/alz.14333 Kramer ES, Johnson MN, Winslow B. Evaluation of suspected dementia. Am Fam Physician. 2025;112(6):657-667. Accessed September 29, 2026. https://www.aafp.org/afp/2025/1200/suspected-dementia-evaluation Galvin JE, Sadowsky CH; NINCDS-ADRDA. Practical guidelines for the recognition and diagnosis of dementia. J Am Board Fam Med. 2012;25(3):367-382. doi:10.3122/jabfm.2012.03.100181 Woodward M, Brodaty H, McCabe M, et al. Nationally Informed Recommendations on Approaching the Detection, Assessment, and Management of Mild Cognitive Impairment. J Alzheimers Dis. 2022;89(3):803-809. doi:10.3233/JAD-220288

Episode summary About 10% of breast cancers are hereditary, and about half of those are due to BRCA1 and BRCA2. In this episode, Rebecca Johnson Wheeler, MS, CGC, and Diana Tully, MS, CGC explore the broader genetic landscape of hereditary breast cancer, including the importance of looking beyond BRCA1 and BRCA2 in genetic testing. They’re joined by a breast cancer survivor whose multigene panel identified a CHEK2 variant, illuminating how that knowledge shaped her health journey despite having no family history of breast cancer. This episode will Differentiate hereditary from familial breast cancer (1:50) Recognize personal and family history features that may indicate a hereditary cancer predisposition (3:00) Describe the role of the genes beyond BRCA1 and BRCA2 in hereditary breast cancer and the value of comprehensive genetic testing  (4:17) Explain how identifying a hereditary cancer predisposition can inform cancer risk management and provide important information for family members (6:26) Date: October 2026 Speaker(s): Rebecca Johnson Wheeler, MS, CGC; Diana Tully, MS, CGC, Kristen O’Hara Contributor(s): Rebecca Johnson Wheeler, MS, CGC; Diana Tully, MS, CGC; Kristen O’Hara; Kelly Tangney, MS, CGC; Marjan Champine, MBA, MS, CGC; Maeson Latsko, PhD Additional resources: Quest Diagnostics Clinical Education Center FORCE Ordering information: Quest Diagnostics Hereditary Cancer References: Apostolou P, Fostira F. Hereditary breast cancer: the era of new susceptibility genes. Biomed Res Int. 2013;2013:747318. doi:10.1155/2013/747318 National Comprehensive Cancer Network. Genetic/Familial High-Risk Assessment: Breast, Ovarian, Pancreatic and Prostate (Version 1.2027). Published August 31, 2026. Accessed September 15, 2026. https://www.nccn.org Peleg Hasson S, Menes T, Sonnenblick A. Comparison of patient susceptibility genes across breast cancer: implications for prognosis and therapeutic outcomes. Pharmgenomics Pers Med. 2020;13:227-238. doi: 10.2147/PGPM.S233485 Wong ESY, Shekar S, Met-Domestici M, et al. Inherited breast cancer predisposition in Asians: Multigene panel testing outcomes from Singapore. npj Genomic Medicine. 2016;1(1). doi:10.1038/npjgenmed.2015.3 Hanson H, Pal T, Tischkowitz M, et al. CHEK2-related cancer predisposition.. In: Adam MP, Bick S, Mirzaa GM, et al., editors. GeneReviews®. University of Washington, Seattle; March 25, 2026. Accessed September 15, 2026. https://www.ncbi.nlm.nih.gov/books/NBK615090/

Polycystic Ovarian Syndrome (PCOS) is a common hormonal and metabolic disorder affecting millions of women, yet a staggering number of cases go undiagnosed. Now, a proposed name change and new diagnostic tools are set to redefine how this complex condition is managed. In this episode, Maeson Latsko, PhD is joined by Marco Marcelli, MD, a board-certified endocrinologist and Medical Director in Research and Development at Quest Diagnostics. They explore the clinical shift toward recognizing PCOS as a metabolic condition, the evolution of diagnostic standards from the Rotterdam criteria to new international guidelines, the pivotal role of AMH blood testing as a noninvasive alternative to ultrasound, and what emerging global data reveals about the true prevalence and presentation of the syndrome. This episode will Discuss the clinical reasoning behind the proposed name change from Polycystic Ovarian Syndrome (PCOS) to Polyendocrine Metabolic Ovarian Syndrome (PMOS) and its implications for managing the condition (3:00) Review the evolution of diagnostic criteria, from the 2003 Rotterdam consensus to the 2023 international guidelines that established Anti-Müllerian Hormone (AMH) as a non-invasive alternative to ultrasound (6:30) Explore emerging global data on the prevalence and phenotypic expression of PCOS, highlighting significant variations across diverse ethnic populations and the impact of cultural practices on diagnosis (15:00) Describe the clinical significance and approach for patients who present with isolated polycystic ovarian morphology (PCOM) on an ultrasound but lack other traditional symptoms of PCOS (18:00)   Speakers: Marco Marcelli, MD; Maeson Latsko, PhD Contributors: Maeson Latsko, PhD; Marco Marcelli, MD; Gregory Buchan, PhD; Trisha Winchester, PhD, MBA; Abhi Patel; Sanjay Dixit, MD; Millicent Kee, MSN, APRN, FNP-BC   Ordering information Hyperandrogenism: Testosterone, Free (Dialysis) and Total, MS Hyperandrogenism: Testosterone, Free (Dialysis), Total (MS) and Sex Hormone Binding Globulin PCOM: Anti-Mullerian Hormone (AMH), Female Thyroid disease: TSH Congenital adrenal hyperplasia: 17-Hydroxyprogesterone Hyperprolactinemia: Prolactin   Additional resources PCOS Test Guide Quest Diagnostics Polycystic ovary syndrome Clinical Focus: Polycystic Ovary Syndrome  Polycystic Ovary Syndrome (PCOS) Diagnostic Algorithm Laboratory Testing in the Differential Diagnosis of PCOS and NCCAH Podcast: Laboratory assessment in PCOS diagnosis and management   References Naeem I, Zehra A, Rehman F, et al. Polycystic ovarian syndrome a risk factor for non-communicable diseases: insights into recent research and prevention approaches. J Ovarian Res. 2025;18(1):219. doi:10.1186/s13048-025-01741-z   Teede HJ, Tay CT, Laven JJE, et al. Recommendations From the 2023 International Evidence-based Guideline for the Assessment and Management of Polycystic Ovary Syndrome. J Clin Endocrinol Metab. 2023;108(10):2447-2469. doi:10.1210/clinem/dgad463   Teede HJ, Khomami MB, Morman R, et al. Polyendocrine metabolic ovarian syndrome, the new name for polycystic ovary syndrome: a multistep global consensus process. Lancet. 2026;407(10545):2329-2339. doi:10.1016/S0140-6736(26)00717-8   Rotterdam ESHRE/ASRM-Sponsored PCOS consensus workshop group. Revised 2003 consensus on diagnostic criteria and long-term health risks related to polycystic ovary syndrome (PCOS). Hum Reprod. 2004;19(1):41-47. doi:10.1093/humrep/deh098   Makwe CC, Olamijulo JA, Balogun MR, Akinkugbe AO, Samuel TA, Udenze JC, Brill F, Marcelli M, Dixit SB, Larsen J, Adeyemo MA, Bi C, Buyalos SP, and Azziz R. Diagnostic Accuracy of Anti-Müllerian Hormone (AMH) for Polycystic Ovarian Morphology (PCOM) and Polycystic Ovary Syndrome (PCOS) in a Nigerian Population-Based Cohort. Accessed preprint. J Endocr Soc. Expected publication date: October 2026

As the number of clinically relevant cancer biomarkers and targeted therapies continues to grow, comprehensive genomic profiling and liquid biopsy are playing an increasingly important role in precision oncology. In this episode, Rebecca Johnson Wheeler, MS, CGC, and Dr Harmeet Dhani explore how biomarker testing has evolved, the complementary roles of tissue and liquid biopsy, and how advances in testing are helping to identify the right care for the right patient across the cancer care continuum. This episode will Describe the pros and cons of tissue and blood-based comprehensive genomic profiling technologies and how they complement each other (6:35) Discuss the relevant guidelines for precision oncology and how providers and laboratories integrate them into practice (8:58) Explore balancing comprehensive molecular information and clinical actionability and opportunities to reduce delays (12:36) Review a patient case where comprehensive genomic profiling influenced care (17:27) Date: September 2026 Speaker(s): Rebecca Johnson Wheeler, MS, CGC; Harmeet Dhani, MD, MBA Contributor(s): Rebecca Johnson Wheeler, MS, CGC; Harmeet Dhani, MD, MBA; Anjana Bhattacharya, PhD; Maeson Latsko, PhD; Lawrence Bai, PhD; Mark Reed, PhD; Marjan Champine, MS, MBA, CGC   Additional resources: Quest Diagnostics Clinical Education Center Quest Diagnostics Solid Tumor Quest Diagnostics Oncology Solid Tumor Identifying Genetic Drivers White Paper   Ordering information: Quest Diagnostics Precision Oncology Menu Oncology Test Requisition Oncology portal   References: Sheikholeslami S, Loo EY. AMP case report: Ultra-hypermutated colorectal adenocarcinoma identified at relapse. CAP TODAY. June 2026 Aghamir SMK, Heshmat R, Ebrahimi M, et al. Liquid Biopsy: The Unique Test for Chasing the Genetics of Solid Tumors. Epigenet Insights. 2020;13:2516865720904052. Published 2020 Feb 28. doi:10.1177/2516865720904052 National Comprehensive Cancer Network. Non-Small Cell Lung Cancer (Version 7.2026). Published June 2026. Accessed August 2, 2026. https://www.nccn.org National Comprehensive Cancer Network. Pancreatic Adenocarcinoma (Version 3.2026). Published June 2026. Accessed August 2, 2026. https://www.nccn.org Wallenta Law J, Bapat B, Sweetnam C, et al. Real-World Impact of Comprehensive Genomic Profiling on Biomarker Detection, Receipt of Therapy, and Clinical Outcomes in Advanced Non-Small Cell Lung Cancer. JCO Precis Oncol. 2024;8:e2400075. doi:10.1200/PO.24.00075 Lockwood CM, Messersmith HJ, Kim AS, et al. Circulating Tumor DNA Testing in Solid Tumors and Lymphoma: ASCO Guideline. JCO Oncol Pract.; June 18, 2026. Accessed August 2, 2026. https://ascopubs.org/doi/10.1200/OP-26-00311 Pankiw M, Brezden-Masley C, Charames GS. Comprehensive genomic profiling for oncological advancements by precision medicine. Med Oncol. 2023;41(1):1. Published 2023 Nov 22. doi:10.1007/s12032-023-02228-x  

While HIV has transitioned from an acute, life-threatening infection to a highly manageable chronic condition, significant complexities in screening, prevention, and long-term care remain. In this episode, Maeson Latsko, PhD, discusses the dramatic evolution of HIV care with Dr Ann MacIntyre, DO, a board-certified infectious disease physician and Senior Medical Director of Infectious Disease at Quest Diagnostics. They explore the cellular mechanisms of HIV, the timeline of diagnostic markers in the blood, the vital role of PrEP and baseline testing, and the clinical shift toward holistic, longitudinal care for patients aging with the virus. This episode will Explain the cellular mechanism of HIV infection and map the clinical timeline of diagnostic markers in the blood, including viral RNA, p24 antigen, and antibodies (3:30) Differentiate between historic and modern HIV testing methodologies, highlighting how the fourth-generation antigen/antibody combo assay addresses the critical window period (6:00) Outline the comprehensive laboratory testing required for safe PrEP initiation, including screening for co-infections like Hepatitis B and monitoring metabolic markers (8:00) Analyze clinical strategies for staging newly diagnosed patients and managing long-term viral suppression, addressing the complex systemic impacts of chronic inflammation on aging patients (13:30)   Speakers: Dr Ann MacIntyre, DO; Maeson Latsko, PhD Contributors: Maeson Latsko, PhD; Dr Ann MacIntyre, DO; Katherine Watson; Trisha Winchester, PhD; Frank Samarro   Ordering information HIV-1/2 Antigen and Antibodies, Fourth Generation, with Reflexes | Test Detail | Quest Diagnostics HIV-1/2 Antigen and Antibodies, Fourth Generation, with Reflexes | Test Detail | Quest Diagnostics HIV-1 RNA, Quantitative, Real-Time PCR | Test Detail | Quest Diagnostics HIV-1 RNA, Quantitative, Real-Time PCR | Test Detail | Quest Diagnostics HIV-1 RNA, Quantitative, PCR with Reflex to Genotype | Test Detail | Quest Diagnostics HIV-1 RNA, Quantitative, PCR with Reflex to Genotype | Test Detail | Quest Diagnostics   Additional resources Clinical Education Center | Quest Diagnostics Clinical Education Center | Quest Diagnostics HIV testing | Quest Diagnostics HIV testing | Quest Diagnostics   References US Preventive Services Task Force. Screening for HIV Infection: US Preventive Services Task Force Recommendation Statement. JAMA. 2019;321(23):2326-2337. doi:10.1001/jama.2019.6587 Centers for Disease Control and Prevention and Association of Public Health Laboratories. Laboratory Testing for the Diagnosis of HIV Infection: Updated Recommendations. CDC. 2014. CDC. HIV treatment and care. Updated April 16, 2026.  Accessed August 6, 2026. https://www.cdc.gov/hiv/clinicians/treatment-care/index.htmlClinical Care of HIV | HIV Nexus | CDC CDC. Clinical Guidance for PrEP | HIV Nexus | CDC. Updated April 30, 2026. Accessed August 6, 2026. Panel on Antiretroviral Guidelines for Adults and Adolescents. Guidelines for the Use of Antiretroviral Agents in Adults and Adolescents with HIV. Department of Health and Human Services. Updated May 27, 2026. Available at https://clinicalinfo.hiv.gov/en/guidelines/adult-and-adolescent-arv. Accessed August 6, 2026.

Despite cervical cancer being one of the most preventable cancers, significant gaps in screening still leave many people vulnerable. But what if the screening process could be brought directly to the patient on their own terms? In this episode, Maeson Latsko, PhD, discusses the ongoing evolution of cervical cancer screening with Quest Diagnostics experts Megan Starolis, MS, PhD, HCLD(ABB), a Senior Scientific Director in Infectious Disease, and Damian Alagia, MD, MS, MBA, the Senior Medical Director for Advanced Diagnostics in Women's Health. They explore the science behind HPV DNA and mRNA testing, the clinical considerations for different screening algorithms, and the revolutionary potential of patient self-collection to improve health equity and save lives. This episode will Trace the evolution of cervical cancer screening from the Pap smear to modern molecular testing and self-collection, and recognize its potential to improve access to care (3:00) Differentiate between HPV DNA and mRNA testing methodologies and analyze the clinical benefits and considerations for primary screening vs co-testing algorithms (5:00) Explore how HPV self-collection can break down barriers to care for underserved populations and improve health equity (11:00) Recognize the critical importance of ensuring appropriate patient follow-up to complete the care continuum after a positive self-collected test (16:40) Speakers: Dr Megan Starolis, MS, PhD, HCLD(ABB); Dr Damian Alagia, MD, MS, MBA; Maeson Latsko, PhD Contributors: Maeson Latsko, PhD; Dr Megan Starolis, MS, PhD, HCLD(ABB); Dr Damian Alagia, MD, MS, MBA   Ordering information HPV Self-Collection HPV DNA (16, 18, Other High Risk), PCR, Vaginal Self-Collected | Test Detail | Quest Diagnostics     Additional resources Clinical Education Center | Quest Diagnostics Instant insights: HPV testing for cervical cancer screening| Healthier World with Quest Diagnostics Bringing cervical cancer screening closer to patients | Quest Diagnostics     Reference List Screening for Cervical Cancer. Obstetrics & Gynecology. 2026;148(1):e63-e67. doi:10.1097/AOG.0000000000006257

Up to 30% of hypertensive patients in specialty care settings may have underlying Primary Aldosteronism (PA), yet a massive diagnostic gap still exists in screening for PA. In this episode, Maeson Latsko, PhD, and Jeffrey Hymes, MD, discuss the critical intersection of resistant hypertension, chronic kidney disease (CKD), and PA. They shed light on the direct, blood-pressure-independent toxicity of excess aldosterone on the kidneys and unpack the latest clinical guidelines from the AHA/ACC and Endocrine Society. They also review a guideline-based algorithm designed to streamline screening and follow-up for PA evaluation. This episode will Explore the bidirectional relationship between chronic kidney disease (CKD) and hypertension, recognizing Primary Aldosteronism (PA) as a highly prevalent underlying cause (4:25) Detail the direct toxicities of excess aldosterone, independent of systemic blood pressure (8:50) Review updated clinical guidelines and a practical diagnostic algorithm to screen, triage, and manage PA patients (12:45)   Ordering information Kidney Profile Kidney Profile with reflex to eGFR (Creatinine-Cystatin C) Kidney Profile with eGFR (Creatinine-Cystatin C) eGFR (Creatinine-Cystatin C) Plasma Renin Activity with Reflex to Aldosterone     Additional resources Clinical Education Center | Quest Diagnostics Interpretation of Plasma Renin Activity With Reflex to Aldosterone Test (test code 13817) | Algorithm | Quest Diagnostics Primary aldosteronism algorithm brochure Quest Diagnostics nephrology brochure Primary aldosterone landing page Hypertension insights landing page     Reference List Whelton PK, Carey RM, Aronow WS, et al. 2025 ACC/AHA/AAPA/ABC/ACPM/AGS/APhA/ASH/ASPC/NMA/PCNA 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 Task Force on Clinical Practice Guidelines. Hypertension. 2025;85(4):e123-e145. Funder JW, Carey RM, Mantero F, et al. The Management of Primary Aldosteronism: Case Detection, Diagnosis, and Treatment: An Endocrine Society Clinical Practice Guideline. J Clin Endocrinol Metab. 2016;101(5):1889-1916. doi:10.1210/jc.2015-4061 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 Brown JM, Siddiqui M, Calhoun DA, et al. The unrecognized prevalence of primary aldosteronism: a cross-sectional study. Ann Intern Med. 2020;173(1):10-20. doi:10.7326/M20-0065 Centers for Disease Control and Prevention. Risk Factors for Chronic Kidney Disease. Centers for Disease Control and Prevention. Updated May 15, 2024. Accessed July 13, 2026. https://www.cdc.gov/kidney-disease/risk-factors/index.html

For decades, assessing Alzheimer’s disease (AD) pathology required expensive PET scans or invasive lumbar punctures, creating significant diagnostic bottlenecks at the neurologist’s office. In this episode, Maeson Latsko, PhD and Dr. Matt Stroh, PhD explore how groundbreaking blood-based biomarkers are completely changing the landscape of brain health. The conversation highlights the recent FDA clearance of a p-tau181 triage test to help rule out AD, as well as the power of advanced multibiomarker models. By combining plasma Aβ42/40 ratio and p-tau217, clinicians can now accurately predict amyloid PET positivity. Adding APOE4 allele count significantly reduces indeterminate results. This episode breaks down how these accessible tools are empowering primary care providers (PCPs) to confidently triage mild cognitive impairment (MCI), explore secondary causes of impairment, and streamline patient care well before a specialty referral is made. This episode will Introduce the shifting clinical landscape of Alzheimer's care, including the role of recently FDA-cleared p-tau181 tests in helping PCPs rule out AD pathobiology (2:15) Differentiate between normal age-related cognitive decline, mild cognitive impairment (MCI), dementia, and Alzheimer’s disease (4:30) Translate the pathophysiology of AD (amyloid plaques and tau tangles) into the clinical utility of advanced blood-based models, demonstrating how combining Aβ42/40 and p-tau217 accurately predicts amyloid PET positivity, while adding APOE4 significantly reduces indeterminate results (6:45) Outline an actionable primary care workflow for patients presenting with cognitive complaints, balancing AD biomarker testing with the assessment of secondary, reversible causes (14:10) Ordering information Quest AD-Detect ABeta 42/40 and p-tau217 Evaluation, Plasma Quest AD-Detect® Beta Amyloid 42/40 Ratio, Plasma Quest AD-Detect® Phosphorylated tau217 (p-tau217), Plasma Quest AD-Detect® Phosphorylated tau181 (p-tau181), Plasma Quest AD-Detect® Apolipoprotein E (ApoE) Isoform, Plasma Dementia Panel, Secondary Causes Additional resources Clinical Education Center | Quest Diagnostics Role of blood testing for Alzheimer’s disease biomarkers within the primary care setting | Quest Diagnostics Alzheimer's Risk Assessment | Quest Diagnostics The Coming Alzheimer's Disease Healthcare Revolution Survey Report AD Detect Multimarker Panel for PCPs | Quest Diagnostics   References Weber DM, Stroh MA, Taylor SW, et al. Development and clinical validation of blood-based multibiomarker models for the evaluation of brain amyloid pathology. Preprint. medRxiv. 2025;2025.02.27.25322892. April 2025. doi:10.1101/2025.02.27.25322892 Hansson O, Edelmayer RM, Boxer AL, et al. The Alzheimer's Association appropriate use recommendations for blood biomarkers in Alzheimer's disease. Alzheimers Dement. 2022;18(12):2669-2686. doi:10.1002/alz.12756 Jack CR Jr, Bennett DA, Blennow K, et al. NIA-AA Research Framework: Toward a biological definition of Alzheimer's disease. Alzheimers Dement. 2018;14(4):535-562. doi:10.1016/j.jalz.2018.02.018 Data on file. Quest Diagnostics; 2026.      

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