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The 2025 American College of Medical Genetics and Genomics (ACMG) Annual Meeting spotlighted some of the most innovative research in rare disease diagnostics and mitochondrial medicine. Among the contributions from…

In recent years, Whole Genome Sequencing (WGS) and Whole Exome Sequencing (WES) have emerged as groundbreaking tools in the field of genomics, offering providers and patients new insights into the…

WHAT IS WHOLE EXOME SEQUENCING? Navigating the complexities of genetic and rare conditions from diagnosis to treatment can be challenging, especially when answers feel out of reach. Determining the genetic…

Healthcare inequality and access to genetic testing is a pervasive challenge across the United States, often most acute in underserved regions with high poverty rates, scarce medical resources, and diverse…

Whole Genome Sequencing (WGS) is at the forefront of comprehensive genetic testing, designed to analyze the entire genome to find an underlying genetic cause (etiology) relating to a patient’s medical…

A Powerful First-Tier Diagnostic Tool Every day counts in the neonatal and pediatric intensive care unit (NICU and PICU), where healthcare providers work tirelessly to both manage symptoms and identify…

Bridging the Gap: Addressing Inequalities in Access to Genetic Testing  In the United States (U.S.), the landscape of healthcare is complex, blending innovative technology with a web of economic, social,…

What Parents Should Know about Genetic Testing for Rare Disease in Intensive Care Settings INTRODUCTION Genetic testing can offer hope for many families that are navigating the complex reality of…

Unlocking Comprehensive Genetic Insights with RNAseq for WGS and WES Whole genome sequencing (WGS) and whole exome sequencing (WES) are comprehensive genetic tests that help improve patient care by enabling…

Reposted from an article in GenomeWeb on May 6, 2024 It takes an average of eight years for babies and children with genetic and rare conditions to receive a diagnosis. For patients…

HOUSTON – (April 25, 2024) – Diagnosing rare Mendelian disorders is a labor-intensive task, even for experienced geneticists. Investigators at Baylor College of Medicine are trying to make the process…

INTRO Navigating health insurance terminology can often feel overwhelming, especially when understanding these terms is crucial for making informed decisions about your healthcare coverage. Whether you’re choosing a new policy,…

Navigating the Maze: Clinicians Cannot Treat What Is Not Diagnosed In the realm of medicine, diagnosis can be half the battle. Clinicians, despite their extensive training and expertise, can find…

Why Everyday Counts in the Intensive Care Unit: How Rapid Whole Genome Sequencing is the Most Comprehensive Testing Solution Intensive care units (ICUs) are dedicated to providing critical care to…

Exploring the Genetic Mysteries: Tandem Repeat Disorders and Whole Genome Sequencing Tandem repeat disorders are a group of genetic disorders characterized by the expansion of specific sequences of DNA within…

BEYOND EPILEPSY SYMPTOMS: UNVEILING DUAL DIAGNOSIS WITH WHOLE EXOME SEQUENCING Epilepsy is a neurological disorder1 that is often complex to diagnose and to treat. For many patients, epilepsy has a…

The Economic Burden of Rare Diseases: Impacts & Challenges While rare diseases are individually rare, collectively they are quite common. According to the National Organization for Rare Disorders, approximately 10%…

Helping Healthcare Providers, Children, and Families Navigate Neurodevelopmental Disorders with Genetic Testing For patients and families facing neurodevelopmental disorders, genetic testing is a critical step in the diagnostic journey. Given…

What are Mitochondrial Diseases and the Benefits of Mitochondrial DNA Testing? The road to diagnosing and treating genetic conditions has never been easy. In many cases, patients and their families…

The Power of Genetic Testing: Unveiling Men’s Health Beyond Expectations In the realm of medical advancements, genetic testing has emerged as a revolutionary tool that provides insights into an individual’s…

DOES MY HOSPITAL NEED A GENETICS DEPARTMENT TO WORK WITH BAYLOR GENETICS? Searching for the genetic etiology to your patient’s complex symptoms or disorder can be overwhelming, especially for healthcare…

EMPOWERING WOMEN TO TAKE CONTROL OF THEIR HEALTH WITH GENETIC TESTING Advancements in genetic science have opened new avenues for understanding and managing women’s health. Genetic testing offered by Baylor…

Improving Cancer Survival Rates with Increased Genetic Testing For clinicians, it is crucial to employ the most effective tools and strategies to identify and manage patients at risk for cancer.…

What is Global Metabolomic Assisted Pathway Screening (Global MAPS®)? Patients and families often ask their healthcare providers about whether neuromuscular disorders are genetic. The short answer is yes – many…

ARE NEUROMUSCULAR DISORDERS GENETIC? Patients and families often ask their healthcare providers about whether neuromuscular disorders are genetic. The short answer is yes – many neuromuscular disorders are caused by…

WHAT IS COLORECTAL CANCER? March is National Colorectal Cancer Awareness Month. According to the American Cancer Society’s 2021 report, colorectal cancer affects approximately 4.1% of men and women combined over…

WOMEN’S HISTORY MONTH: A SPOTLIGHT ON WOMEN IN GENETIC TESTING Women have made significant contributions to the genetic testing industry since the early days of the field and are having…

WHAT ARE RARE DISEASES? Rare Disease Day is observed on February 28, the rarest date of the year. The rare disease movement is a global effort developed to ensure that…

THE IMPORTANCE OF DIVERSITY IN GENETIC RESEARCH February is recognized as Black History Month. For this Black History Month, we want to take a moment to emphasize the lack of…

VERBAL REPORT V. ACTUAL REPORT: WHAT’S THE DIFFERENCE? Imagine this genetic testing scenario, two days after you send in your patient’s sample, you receive a call from Lab A, which…

WHAT IS CHROMOSOMAL MICROARRAY ANALYSIS? We understand that selecting the right genetic test for your patient can be an overwhelming experience. At Baylor Genetics, we know it’s important to provide…

WHAT IS CARRIER SCREENING? Over the last decade, access to preconception and prenatal genetic screening has become more common. For couples interested in starting a family, this means it’s easier…

In the field of clinical genetics, we spend a lot of time studying and diagnosing rare disorders, diseases that affect one in a thousand or even one in a million…

On a busy Friday noon, an urgent request from a local children’s hospital notified Baylor Genetics that a 10-day-old baby failed newborn screening (NBS) and was suspicious of maple syrup…

Many genetic counselors will know this occurrence. We go to a BBQ or other social event where we meet new people for the first time. Inevitably the question is asked,…

With June being Alzheimer’s disease and brain awareness month, I began talking to my colleague about the genetic forms of dementia. While discussing the overall goal of the month, she asked me what the advantages are of early detectaion for Alzheimer’s disease…

A fellowship is critical for individuals to continue growing in their field while working and conducting research. At Baylor Genetics, continuing education is extremely important. This is one of the…

Differentiating Microarray Tests Many believe that all arrays are the same and that there is no difference between ordering a chromosomal microarray analysis (CMA) from one lab or another. While…

In honor of Huntington disease (HD) awareness month, I thought I would present a case study highlighting some of the common issues families encounter with HD and how genetics plays…

Whole exome sequencing (WES) is one of the most powerful and useful diagnostic tools for diagnosing sick children. WES analyzes thousands of genes to identify changes and discover the source…

It is more important than ever for providers to be able to order tests and have access to all a patient’s medical information from one online portal. Baylor Genetics understands…

While I was studying genetic counseling at my university, I remember being told clinical genetics covers all the way from the womb to the tomb. Certain medical specialties focus on…

Background on the Undiagnosed Disease Network   The Undiagnosed Diseases Network (UDN) is a research study initiated in 2015, funded by the National Institutes of Health Common Fund, with a goal of assembling…

In recent years, there has been an increase in community awareness surrounding rare diseases. This has been aided in part by the increasing popularity of Rare Disease Day, which occurs…

Many people begin the year by mentally reviewing the past year and reflecting on what they would like to achieve in the new year. Some people make New Year’s resolutions…

BACKGROUND Whole genome sequencing (WGS) is poised to become a first-tier diagnostic test for patients with rare genetic disorders. However, professional society guidelines and standards addressing the definition and deployment…

Background  Rare diseases or orphan diseases are defined as a condition that affects fewer than 200,000 people in the U.S. This definition was created by Congress in the Orphan Drug…

Although this was officially my second National Society of Genetic Counselors Annual Conference, it was my first as a delegate. Last year, I attended as an exhibitor and only attended…

As we move into the flu season during the COVID-19 crisis, a few questions arise for many: How will the flu affect navigation of this global pandemic? How will I…

Background and History Breast cancer is the most common cancer in women and the second most common cancer overall. It has a heterogeneous etiology ranging from genetic predisposition, lifestyle, environment,…

Down syndrome (DS) is a genetic disorder, occurring when an individual has all or part of an extra copy of chromosome 21 (Trisomy 21). The following will address fundamental genetics of…

Most individuals are familiar with critically ill newborn cases. The kids that make the adrenalin surge and keep us up at night. Perhaps their pregnancies were normal. Or, perhaps there…

The ability of cell free DNA (cfDNA) screening to assess fetal genetic status during pregnancy continues to improve and expand at what feels like an exponential rate. Also known as…

Background Genomic variants are either caused by germline mutagenesis, a central biological process and driver of most heritable variations in humans, or caused by acquired processes in specific tissues leading…

  Quantum leaps of technological advancement in sequencing methodology over a decade ago spearheaded the current genomic medicine revolution. This new methodology – massively parallel sequencing, also known as next-generation…

Every genetic case is different. Every client is different, even people within the same family experience the same genetic conditions differently. Even with these differences, the process for genetic counselors nationwide is somewhat…

Baylor Genetics is a one-stop-shop for diagnostic genetic services and houses a number of specialty laboratory divisions based on the fundamentals of biology. These specialties include: RNA Analysis: RNAseq (for…

Over the last several months, our lives have changed dramatically with the advent of COVID-19 disease. COVID-19 is caused by a virus known as severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). More than 11 million cases have been…

The ongoing pandemic of the coronavirus disease 2019 (COVID-19) is caused by the novel severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). Shockingly and unexpectedly, COVID-19 has been reported in more than 7.4 million individuals worldwide as of June 11, 2020. As of now, there…

1 in 54 children are born with autism throughout the world. A common misconception with children that have autism is that they are incapable of taking care of themselves or reaching milestones.…

I am a genetic counselor by training and as the title would suggest, I am interested in health conditions with a genetic or inherited basis, but also the psychosocial or “people” aspect of health…

“Our bodies are made of millions and millions of cells. We have skin cells, blood cells and nerve cells, bone cells and many, many different types of cells. Inside the…

As the number of coronavirus, specifically COVID-19, cases continue to spread, so does the panic worldwide. While many are worried about getting infected, there are others that are worried about something entirely different; people being infected and their results coming…