Healthier World with Quest Diagnostics

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

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

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

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

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

Additional resources

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

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

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.

Ordering information

Additional resources

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

Ordering information

Additional resources

References

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

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:

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

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

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.

This episode will:

Additional resources

References