• By Carrie Horton, MS, CGC
  • Posted February 23, 2024

Variant Interpretation in Real Time: Sometimes it Takes a Village

Every individual's genetic makeup is unique, containing the blueprint for their health, including susceptibility to diseases and potential response to treatments. But understanding your genes is like deciphering a complex code. DNA varies slightly from person to person, and interpreting the medical significance of those differences, or variants, …


  • By Meagan Farmer
  • Posted February 21, 2024

A GC’s Perspective on Lab Expertise: Getting Answers After Years of Uncertainty

Kaitlin Stokes is a genetic counselor at Houston Methodist West in Houston, TX. She sees patients with personal or family histories of cancer that may be due to an underlying hereditary cause. We recently connected with Kaitlin about her role, and she shared, “I love what I do because I feel like I’m helping people. I’m giving them control …


  • By Liese Vito, MD
  • Posted February 7, 2024

CARE Patient Examples at Lake Health

Many patients are anxious about their family history—more than providers realize. In some cases, they may feel like a ticking time bomb with no options. In Part One of this blog series, I talked about The Ambry CARE ProgramTM and how Lake Health has been able to use it to identify more high-risk patients, increase family history and cancer risk …


  • By Meghan Towne, MS, CGC, LCGC
  • Posted January 30, 2024

Ambry Collaborations with GeneMatcher Help Further Disease Gene Discovery and Improve Diagnostic Rates

The Problem of Unsolved Cases While our knowledge of human genetics has grown significantly, many gaps remain in our understanding of genes and their contribution to human disease.1-3 We have a lot to learn: •    Only about 16% of all the genes in the human body have an established disease association. •    The genetic cause is known …


  • By Liese Vito, MD
  • Posted January 24, 2024

Hereditary Cancer Testing with CARE

According to studies, 93% of high-risk women who qualify for breast MRI have not had one.1 97% of women at risk for hereditary breast/ovarian cancer have not had genetic testing.2 These healthcare gaps mean high-risk patients are being missed when it comes to proactive and preventative care. As a practicing OB-GYN for twenty years, I have seen …


  • By Jessica Scott, MGC, CGC
  • Posted January 17, 2024

The Patient Impact of Lab Expertise and Collaboration

“My advice for clinicians and healthcare providers who are ordering genetic testing is [that they] should feel that they are partners with the lab,” explains Chana Ratner, Genetic Counselor at Hackensack University Medical Center. We were grateful for the opportunity to connect with Chana and to discuss her experience as a clinical genetic …


  • By Marcy Richardson, PhD
  • Posted December 19, 2023

The Path to Clinical Relevance: What a Study on RAD51C Reveals about Resolving VUS

Everyone has genetic variation….and lots of it. It’s part of what makes us each unique. Genetic variation is defined by differences in our own genome and a reference genome. (The fact that there is only one reference genome selected to compare to all of our collective, rich, human diversity is a topic for another post.) Another source of genetic …


  • By Meagan Farmer
  • Posted December 8, 2023

A Genetic Counselor’s Experience with Proactive Reanalysis through Patient for Life: An Interview with Kelly Minks, MS, CGC

At the National Society for Genetic Counselors Annual Conference, I had the chance to sit down with Kelly Minks, MS, CGC. Ms. Minks is a genetic counselor in the Department of Neurology at the University of Rochester Medical Center, with a clinical practice focused on pediatric neurology. She routinely orders exome testing for children with developmental …


  • By Tawanna St. Lewis, MS, CGC
  • Posted November 20, 2023

Guest Blog: The Importance of Family Health History

My name is Tawanna St. Lewis, and I have been a genetic counselor for going on seven years now.  My love for the profession continues to grow. I remain passionate about my role because I enjoy speaking with and helping patients, and I genuinely appreciate it when patients feel comfortable enough to share their health history and family history. …


  • By Nicole Teed
  • Posted November 14, 2023

Peace of Mind: Michelle Majewski Trusts the Patient for Life Program to Share Answers for Her Son Owen

Like most working moms, Michelle Majewski is busy. She spends her days juggling a career as a sales account executive, managing a household, and spending quality time with her husband, their son Owen, and their two dogs.  Owen, now 4 years old, is a charmer. He also has extra medical needs, without a clear diagnosis or explanation. The search …


  • By Kristina O'Quinn
  • Posted October 25, 2023

Off My Chest: How Negative Genetic Testing and a Supportive Community Helped Me Navigate Breast Cancer

In the fall of 2021, my eighteen-year-old child was making an appointment for an annual check-up, then handed me the phone and said, “Mom, don’t you need a check-up? Didn’t you miss your appointment last year because of COVID?” I had, in fact, missed my annual check-up and mammogram. A few days later, after the check-up and mammogram, I …


  • By Jessica Grzybowski, MS, CGC
  • Posted October 17, 2023

Understanding Gene-Disease Validity in Breast Cancer: The Power of Evidence

When it comes to understanding the genetic basis of diseases, evidence plays a crucial role. Gene-disease validity measures the strength of evidence associating pathogenic variants or changes in a gene to a genetic disease or syndrome. In the context of breast cancer, which affects approximately 1 in every 8 women, grasping gene-disease validity …


  • By Meagan Farmer
  • Posted September 27, 2023

Ambry Spotlight: BRCAResponder Amy Byer Shainman

Amy Byer Shainman, also known as BRCAResponder, is a patient advocate, author, and producer who provides support and education related to having a pathogenic variant in BRCA1/2 or other cancer predisposition genes. We connected with her ahead of National Previvor Day and Hereditary Breast and Ovarian Cancer Week.  Amy’s sister was …


  • By Meghan Towne, MS, CGC, LCGC
  • Posted September 20, 2023

Genetics in Medicine publication demonstrates a 10% lower rate of VUS with WES/WGS compared to panels

Are uncertain results (variants of uncertain significance, or VUS) more likely in multi-gene panels (MGP) or whole exome- and genome-based (WES/WGS) tests? Ambry recently participated in a study led by the Medical Genomic Initiative (MGI) comparing the VUS rates for MGP and WES/WGS. The study, conducted across 19 clinical laboratories in North …


  • By Ashley Thompson
  • Posted September 14, 2023

Ovarian Cancer Awareness Month Spotlight: Norma Livingston Ovarian Cancer Foundation

Norma was a healthy, active 65-year-old woman who was rarely sick and had always been proactive about her health. She went to her internist complaining of weight gain, abdominal discomfort, and a chronic cough. When the diagnosis was finally made, Norma had stage 4 ovarian cancer. She endured nine hours of surgery, countless rounds of chemotherapy, …


  • By Meagan Farmer
  • Posted August 2, 2023

Her Healthcare: Offering Comprehensive Care with Hereditary Cancer Testing

Dr. Noel Boyd is an OB/GYN who has been in private practice in a suburb of Houston, TX, for 21 years. The patients seen in her practice, Her Healthcare, range in age from 9 to 99, and she cares for them through everything from routine exams to high-risk pregnancy, from contraception counseling to cancer screening.  “I really love taking care …


  • By Jodi Tahsler
  • Posted June 14, 2023

Passing on a Legacy of Health: Ben Huebsch Shares His BRCA Story for Men’s Health Week

Ben Huebsch was inspired to become an educator because of his mother’s advice to give back to his community. He loves his job as a middle school principal: he gets a front-row seat to the impact a dedicated staff can have on young lives! He is continuing his mother’s legacy by sharing his firsthand experience with BRCA testing for …


  • By Dr. Harry Ostrer, M.D.
  • Posted June 13, 2023

SCOTUS Tenth Anniversary: Myriad at 10

This week, we are celebrating the tenth anniversary of the Supreme Court’s decision, Association of Molecular Pathology versus Myriad Genetics (“Myriad") that overturned the validity of gene patents. The case was successful, because of some remarkable contingencies, first the conceptualization by ACLU lawyer Chris Hansen and his advisor Tania …


  • By Jodi Tahsler
  • Posted June 13, 2023

Outlier: Runi Limary Let Her Voice Be Heard on BRCA Gene Patents

  When it comes to breast cancer, Runi Limary has more personal experience than average. She not only spent time working at a nonprofit for people with breast cancer, but she was diagnosed herself at the young age of twenty-eight. When ACLU lawyers reached out to her about the court case regarding BRCA1 and BRCA2 patents to …


  • By Morgan Turpin, MB(ASCP), CGMBS
  • Posted June 8, 2023

Morgan Turpin and Son Shayne Find Connection with Dravet Syndrome Families

Morgan Turpin, MB(ASCP), CGMBS, Technical Systems Manager, is an Ambry Genetics employee who has firsthand knowledge of the benefits of exome testing. Her son Shayne went through a diagnostic odyssey of his own before he was a toddler. Exome testing opened up many possibilities for the family, including an online community and treatment options. …


  • By Jodi Tahsler
  • Posted May 18, 2023

Meet the Gene Team: Jennifer Huang, PhD, presents the Gene of the Month, PTPN4

Meet the Gene Team The Gene Team is an essential part of Ambry Genetics. This passionate team of experts is inspired by advancing the science of gene characterization and being able to help patients. For our third installment, we would like to introduce Jennifer Huang, PhD, Senior Clinical Scientist at Ambry Genetics.  Dr. Jennifer Huang is …


  • By Jodi Tahsler
  • Posted April 12, 2023

Ambry Spotlights Rob Pilarski: Seeing Genetic Testing’s Big Picture

  Ambry Genetics caught up with Robert Pilarski, MS, LGC, MSW, Director of Medical Affairs, at his home on the shore in Cape Cod. He describes the town as “his happy place,” and in learning more about his role at Ambry, it seems that his career has entered a happy place as well. Rob has been with Ambry for over two years and is often sought …


  • By Jodi Tahsler
  • Posted April 11, 2023

Meet the Gene Team: Jeni Herrera-Mullar, MGC, CGC, DMA, presents the Gene of the Month, MSH3

Meet the Gene Team The Gene Team is an essential part of Ambry Genetics. This passionate team of experts is inspired by advancing the science of gene characterization and being able to help patients. For our second installment, we would like to introduce Jeni Herrera-Mullar, MGC, CGC, DMA, Principal Clinical Scientist at Ambry Genetics.  Jeni is …


  • By Catherine Schultz, MS, CGC
  • Posted March 23, 2023

Ambry Genetics Diagnostic Dilemma: +RNAinsight® Reveals Lynch Syndrome in Sisters

In recognition of Colon Cancer Awareness Month, Ambry would like to share the story of Jane and Julie Smith (not their real names) – sisters and cancer survivors. Jane was diagnosed with colon cancer in 2004 at the age of 36. While she was concerned about her diagnosis and family history of ovarian cancer, genetic testing was not widely available …


  • By Jodi Tahsler
  • Posted March 8, 2023

International Women’s Day: Spotlighting Cathrine Keller, MD, A Woman of Substance

Being a “woman of substance” requires a passion for benefitting the greater good. Dr. Cathrine Keller has it in abundance. “We believe the greater good is to put our patients’ health and safety at the epicenter of every decision we make.”   A woman of substance seldom has a neutral position. As a leader in the fight against breast cancer, …


  • By Jodi Tahsler
  • Posted March 2, 2023

Meet the Gene Team: Bess Wayburn, PhD, CGC, presents the Gene of the Month, SPTBN1

Meet the Gene Team The Gene Team is an essential part of Ambry Genetics. This passionate team of experts is inspired by advancing the science of gene characterization and being able to help patients. For our first installment, we would like to introduce Bess Wayburn, PhD, CGC, Principal Clinical Scientist at Ambry Genetics.  Bess Wayburn …


  • By Melissa Holman, MS, CGC
  • Posted February 28, 2023

American Heart Month Spotlight: Sudden Cardiac Arrest in Athletes

Earlier this year, the nation’s attention was captured by Damar Hamlin’s story after he collapsed on the field from sudden cardiac arrest (SCA) during Monday Night Football. After Hamlin’s collapse, teammates, fans and most of America watched as CPR was performed and he was taken to the hospital in an ambulance. In the days that followed, …


  • By Lisa Kindel
  • Posted November 15, 2022

Live Life Proactively: Trinity Chappelear Shares Life Post-ATM Mutation Diagnosis

The adage “knowing is half the battle” describes Trinity Chappelear perfectly. Her dear friend Brandi Preston lost her mother to breast cancer at age 14, spurring Preston to start The Kamie K Preston Hereditary Cancer Foundation, based in Omaha, Nebraska. The non-profit is devoted to educating and supporting awareness for genetic testing to …


  • By Jodi Tahsler
  • Posted November 10, 2022

A Q&A with My Faulty Gene founder Kathy Baker

My Faulty Gene is a nonprofit organization that provides information and assistance to individuals whose family medical history suggests genetic testing might be helpful in identifying an increased risk of disease due to a genetic mutation. They believe that everyone in need of genetic testing should have access to it. We sat down with Kathy …


  • By Noelle Carbognin
  • Posted February 17, 2022

Thanks to Genetic Testing, I Now Know My Cancer Risk

“It’s one thing to be scared to hear something, it’s another to die from not hearing something at all.”Rick, Colon & Kidney Cancer Survivor (American Cancer Society) When I was twelve years old, my cousin was diagnosed with Stage 4 colon cancer. She was only 24. My mother knew my grandfather on …


  • By Alexandria Meyer
  • Posted November 8, 2018

I am a Genetic Counselor- What Does That Mean?

“Genetic counselor” is not just a job title, though it is one that I have been enormously proud to carry for the past 10 years.  In that time, I have come to primarily think of “genetic counselor” as a term which embodies a skill set.  Just like Liam Neeson in “Taken,” we have a very special set of skills,  however, our skills allow …


  • By Aaron Elliott, PhD
  • Posted July 13, 2018

Quality and Experience Bring Value to Genetic Testing

Ambry was founded with one goal– help patients and families. It is with this goal in mind that we design every test, accession every sample, interpret every result, and generate every report. Prior to becoming CEO at Ambry, I held various positions here, including Chief Scientific Officer for 5 years. Our motto is to design, validate and perform …


  • By Jessica Ordonez, MS, CGC
  • Posted June 28, 2018

Benefits of Utilizing Family History & Clinical Data Management Tools to Maximize Efficiency and Productivity in Clinical Cancer Risk Assessment

As a genetic counselor, creating a family history is one of my greatest tools for clinical practice. It helps me assess an individual’s risk for a particular genetic condition, establish rapport with my patient, and educate on the features and variability of a genetic condition. For many years, family history was a manual process, where stencils …


  • By Billy Chen
  • Posted June 25, 2018

Coming of Age: Whole Exome Sequencing

Whole exome sequencing (WES) is an efficient way to identify genetic variants in all of an individual's genes. It does this by sequencing the functionally relevant regions of approximately 20,000 genes of the human genome.  Compared to traditional genetic testing trajectory, which tends to be more time-consuming, recent studies indicate WES can …


  • By Jessica Profato, MS, CGC
  • Posted June 8, 2018

I Survived Cancer, so Why do I Need Genetic Testing for it?

As a clinical genetic counselor, I saw many cancer survivors for genetic counseling. In some cases, it had been 30-40 years since they were diagnosed. Some of them were in their 60s-70s when I saw them, but they were young at the time of their cancer diagnosis. Years later, they were referred to me to talk about the possibility that their …


  • By Stephany Tandy-Connor, MS
  • Posted March 28, 2018

Genetic testing at home or from the doctor’s office – same difference?

  There has been a lot of talk about Direct-To-Consumer (DTC) genetic testing and the caveats that come along with that type of testing, but what does it all really mean? What is the actual difference between a DTC genetic test and a genetic test ordered by a medical professional through a clinical laboratory? There are several things that make …


  • By Stephany Tandy-Connor, MS
  • Posted March 22, 2018

False-positive results released by direct-to-consumer genetic tests highlight the importance of clinical confirmation testing for appropriate patient care

The explosion of direct-to-consumer genetic testing over the last few years has created a ton of buzz, beyond just ancestry, health traits and wine preferences. Many of these DTC labs also release raw data to the consumer; this often leaves many individuals interested in what these findings mean and their potential impact on their healthcare …


  • By Amanda Sheldon
  • Posted February 28, 2018

Finding the Missing Link of Heart Disease in Families: Familial Hypercholesterolemia (FH)

Many people have friends and family members who tell stories of losing their father when he was 40, or having a mother who had a heart attack in her 30s. These same people may even know that they have high cholesterol, and sometimes are told it is inherited. What they don’t know is that this condition could be familial hypercholesterolemia (FH) …


  • By Jessica Profato, MS, CGC
  • Posted February 15, 2018

Using Family History to Guide Cancer Prevention

There are many factors that impact your patients’ risk to develop certain cancers, including whether or not they have a family history of the disease, which can significantly impact the likelihood they may develop cancers such as breast, colorectal, and prostate. Individuals with a strong family history of cancer may have a hereditary cancer …


  • By Aaron Schmidt
  • Posted February 12, 2018

Science in 60 - Genetic Testing and Familial Hypercholesterolemia - (FH)

Editor’s Note: Science in 60 is a new video series from Ambry in which our researchers will give a brief overview of how genetic testing can help everyone understand disease. In this inaugural segment, Ambry genetic counselor Tami Johnston, MS CGC, looks at how genetic testing can improve the diagnoses and treatment plans for patients with …


  • By Beth Kuhn
  • Posted January 30, 2018

How I Got Ahead of Cancer After Learning About My BRCA2 Gene Mutation

After watching my mom and aunt battle bilateral breast cancer - which included chemotherapy, radiation, mastectomies (surgical removal of the breast(s)), and all the physical and emotional anguish that accompanies it – I learned that I carry a BRCA2 gene mutation. It runs in our family. I was told that my inherited BRCA2 mutation …


  • By David Pfeifer
  • Posted December 18, 2017

Have a Little Heart: The Growing Segment of Cardiovascular Genetics

From consumers, to physicians to genetic counselors, the importance of heart health is taking center stage in genetics. Clinicians from all specialties are recognizing the benefits of cardiovascular genetic testing; inherited arrhythmias, cardiomyopathies, thoracic aortic aneurysms, and familial hypercholesterolemia are becoming more commonly discussed …


  • By Aaron Schmidt
  • Posted December 18, 2017

Ambry Celebrates a Milestone Year

Ambry Celebrates a Milestone Year Ambry is looking forward to an exciting 2018, after experiencing a year of reaching important milestones and seeing many changes in 2017. From joining the Konica Minolta family, to the launch of our paired testing in our mission to understand all disease, to say it was a busy year is an understatement. Test Launches Ambry …


  • By Jessica Profato, MS, CGC
  • Posted December 6, 2017

How Ambry Affected Hereditary Cancer Testing in 2017

It has been an exciting and busy year at Ambry Genetics, packed with steps forward on our path towards understanding all human disease. We have continued our dedication, not only to quality testing, but to innovation, research, and patient advocacy. As we reach the end of 2017, we look forward to an even more impactful 2018 and working together …


  • By Eve Mart
  • Posted November 20, 2017

Genetic Testing May Have Changed Things for My Mom

*Editor's Note:  In honor of Family History Day, which is on Thanksgiving, Eve Mart is sharing the story how hereditary cancer has shaped her relationship with her mother, and how genetic testing may have been able to help change the course of her mother's health.  I often tell women “be your own best advocate”, and I truly mean …


  • By Taylor Leigh
  • Posted November 10, 2017

Why Genetic Counselors are Integral to Ambry

In our more than 20 years of operation, Ambry has come a long way. Looking back, it’s important to remember that we would not be “Ambry Genetics” without our genetic counselors. Ambry is built on the foundation of quality genetic testing that helps people find answers – and genetic counselors have been with us from the beginning, working …


  • By Desiree Magee
  • Posted November 8, 2017

Genetic Counselors: Companions on the Journey to Rare Disease Diagnosis

Our daughter Daphne started missing developmental milestones at around 6 months of age. She was unable to sit on her own and unwilling to eat baby food.  We started down the path of diagnosis, which was long and exhausting and went like this:  First, we went to our pediatrician to document our initial concerns and obtain referrals for a physical …


  • By Aaron Schmidt
  • Posted October 23, 2017

Ambry Contributes to the Genetic Community’s Scientific Knowledge at ASGH

Ambry strives to always present impactful research that moves the science of genetics forward at tradeshows and conferences throughout the year. Below, are summaries of the research we presented at this year's American Society of Human Genetic's Annual Meeting.  Black, M.H., et al: Type 2 Diabetes Variants Contribute to Breast Cancer …


  • By Souzan El-Eid, MD, FACS
  • Posted October 17, 2017

A Breast Cancer Surgeon Offers Perspective on Patient Care

An estimated 252,710 women will be diagnosed with breast cancer in 2017.1 Early detection of breast cancer is critical for successful treatment of this disease - women who are diagnosed with early stage/localized breast cancer have a 5-year survival rate of 98.9% 1 We hope that this Breast Cancer Awareness Month will inspire more people to discuss …


  • By Jessica Profato, MS, CGC
  • Posted October 16, 2017

Identifying Patients with Lynch Syndrome: A Paired Somatic/Germline Testing Approach

Lynch syndrome is one of the most common hereditary cancer syndromes, affecting about 1/279-1/440 people in the U.S. It is caused by a genetic mutation in one of five genes: MLH1, MSH2, MSH6, PMS2, or EPCAM. Individuals with Lynch syndrome have a significantly increased lifetime risk for multiple types of cancer including colorectal …


  • By Aaron Schmidt
  • Posted October 13, 2017

Ambry’s NSGC Research Paves the Way for Future Scientific Discovery, Clinical Practice Enhancements

In our quest to understand all human disease, Ambry employs a team of researchers who investigate topics from every area of genetics research. Throughout her tenure at Ambry, Zoe Powis, MS CGC, Supervisor of Clinical Genomics Research, has contributed much to the broader body of knowledge about the field of genetics. At this year’s National …


  • By Aaron Schmidt
  • Posted October 9, 2017

Ambry's Research at the National Society of Genetic Counselors 2017 Annual Meeting

We present impactful research to move the science of genetics forward at tradeshow and conferences throughout the year. Check out some of the research, separated by category below, that we brought to this year’s National Society of Genetic Counselor’s annual meeting. Read about the contributions from our lead researcher Zoe Powis and the …


  • By Laura Panos Smith
  • Posted October 4, 2017

Hereditary Cancer Tests: Is Bigger Always Better?

Just five short years ago, hereditary cancer testing was much simpler for patients and healthcare providers.  There were finite criteria, associated with a handful of genetic conditions, and healthcare providers could order single-gene (or single-syndrome) genetic testing for patients who met those criteria.  Since 2012, the field of genetics …


  • By James L. Wilder, MD
  • Posted September 11, 2017

The Benefits of Genetic Testing for Your GYN/ONC Practice

An estimated 22,440 women will be diagnosed with ovarian cancer in 2017. Early detection is critical for successful treatment of this disease, which has a 5-year survival rate of 92.5% for women who are diagnosed with early stage/localized ovarian cancer.1 We hope that Ovarian Cancer Awareness Month will bring more women to their healthcare providers …


  • By Brian Helfand, MD, PhD
  • Posted September 7, 2017

How Genetic Testing Can Benefit Your Urology Practice

An estimated 161,360 men will be diagnosed with prostate cancer in 2017; early detection is critical for successful treatment of this disease.  We hope that Prostate Cancer Awareness Month will bring more men to their healthcare providers asking about prostate cancer screening or about their risk of developing this disease. Genetic testing for …


  • By Taylor Leigh
  • Posted August 15, 2017

Ambry Advances Understanding of Human Disease Through Epilepsy Gene Research

  At Ambry, we believe working together is better, that sharing data is essential to finding answers faster. Our scientists embody these beliefs by collaborating with other talented researchers and physicians to understand human disease, most recently in epilepsy genetics. We are proud to have contributed to the clinical research reviewed …


  • By Jessica Profato, MS, CGC
  • Posted July 26, 2017

Why Paired Tumor/Germline Testing?

Germline genetic testing is used by many labs to evaluate a patient’s predisposition to hereditary cancer, and produces excellent results in its analysis of many genetic conditions. However, when germline testing is combined with tumor testing as a single paired test, it may yield even more helpful results in certain situations. Specifically, …


  • By Carin Espenschied
  • Posted June 29, 2017

What Happens When I Get My Genetic Test Results?

*Editor's Note: This post was originally shared on June 8th, 2016 and has been updated with current information.    Learning the results of genetic testing can be a stressful experience for some, but it also has the potential to be empowering.  If you are waiting for your genetic test results to come back or are considering …


  • By Pearl Yee, M.D.
  • Posted June 27, 2017

Physician Spotlight: Integrating Genetic Testing for Hereditary Cancer Into Your OBGYN Practice

Genetic testing for hereditary cancer has evolved significantly over the past several years. We are continually learning more information about genes that are associated with increased risks for various cancers; and there are many different genetic tests available that can help you learn more precise information about your patients’ cancer risks, …


  • By Deepti Babu, MS, CGC
  • Posted May 18, 2017

How are Direct-to-Consumer and Medical-Grade Genetic Tests Different?

As we find more ways to take charge of our health, genetic testing is becoming something that many consider and, in fact, has become easier to access than ever before. An appointment with a doctor or genetic counselor is no longer required to access genetic testing – for some types of genetic tests, it’s now possible to order a test kit online, …


  • By Jonathan Rodis, MBA
  • Posted May 11, 2017

Living with Marfan Syndrome: Part 2 of 2

It’s now 1990, and I’ve now had my life-saving heart surgery. After spending nearly a month in the hospital with health complications, I was finally able to go home. After another month at home trying to recover, I decided to head back to work to continue the job and career that I worked long and hard to achieve in executive management and …


  • By Stephany Tandy-Connor, MS
  • Posted May 4, 2017

Direct-to-Consumer Genetic Testing: Taking the Trend to the Next Level…Responsibly

Our DNA tells a story — it tells us who we are. With advancements in genetic testing and an increased awareness in personalized healthcare, interest in direct-to-consumer (DTC) testing is on the rise. DTC genetic testing companies have made limited genetic testing for the general population readily accessible to healthy individuals. However, …


  • By Jacqueline Washle
  • Posted May 4, 2017

Surfing with a Purpose: How the Mauli Ola Foundation Helps People with Cystic Fibrosis

Editor’s Note: In honor of Cystic Fibrosis Awareness Month, we asked Jacqueline Washle, Ambry’s Community Outreach Manager, to tell us about the Mauli Ola Foundation, which supports people with cystic fibrosis and other inherited conditions as part of its mission. Did you know that going to the beach is not only a fun pastime for …


  • By Brittney Murray, MS, CGC
  • Posted April 27, 2017

Using Technology to Help with your Genetic Heart Disease Risk

Technology is everywhere.  It has become pervasive in our lives.  Phones and computers became smaller, smaller, and then somehow bigger and bigger again as our phones become our new computers. Increasing technological advances are also propelling healthcare: newer techniques, smarter robotics, and new drugs.  Within genetics, testing techniques …


  • By Jackie Connor
  • Posted April 17, 2017

AmbryShare Extends Cohort Invite to Autism Clinicians and their Patients

Accurate genetic testing can help clinicians provide more individualized treatments for their patients, and the more genetic information a researcher has access to, the more targeted treatments can be developed. {Read: “For Your Breast Cancer Practice: Data From More Than 60,000 Refines Predisposition Gene Risks”} In March 2016, Ambry’s …


  • By Jonathan Rodis, MBA
  • Posted April 13, 2017

Living With Marfan Syndrome- Part 1 of 2

Editor’s Note: We are so pleased to continue introducing new voices into the Ambry patient blog. This week we are honored to have Jon Rodis, patient advocate, tell us what it was like to be diagnosed with Marfan syndrome, an inherited condition that can cause heart problems, many years ago – well before genetic testing became available …


  • By Deepti Babu, MS, CGC
  • Posted April 10, 2017

Can Patients with Hematological Cancer Have Genetic Testing?

The short answer is: Genetic testing is possible, but depends on other factors. The question of whether genetic testing is possible for patients with a history of hematological cancer comes up often in the clinical setting and in the testing laboratory. This makes sense since genetic testing is performed on DNA isolated from white blood cells …


  • By Tiffany Au
  • Posted April 6, 2017

What is Life Like for Someone with Autism? (Part 1 of 2)

Editor’s Note: To help support National Autism Awareness Month, we are sharing our interview with Kieran Best, a 14-year-old young man with an autism spectrum disorder.  Kieran graciously shared insights into what his day-to-day life is like and offered words of wisdom to others who may be in his situation. Check back in two weeks to read our …


  • By Deepti Babu, MS, CGC
  • Posted April 3, 2017

Current Genetic Testing Guidelines Miss Some Families with CDH1 Mutations

Hereditary diffuse gastric cancer (HDGC) is an inherited cancer syndrome caused by CDH1 gene mutations. It occurs most frequently in Japan and eastern Asia; current incidence in the U.S. is estimated at 10-40 individuals per 100,000.1 Individuals with mutations in the CDH1 gene have up to an 80% lifetime risk of diffuse gastric …


  • By Jackie Connor
  • Posted March 31, 2017

Ambry Experts Provide Insight on Genetic Testing’s Clinical Utility at the 2017 SSO Annual Cancer Symposium

Ambry has continued to provide clinicians with the most relevant and useful information to encourage education about the benefits of genetic testing for patients and ways to streamline genetic testing in clinical practice. At the 2017 SSO Annual Cancer Symposium, Ambry hosted the presentation “On the Cutting Edge: Sharpening Your Genetic Awareness …


  • By Jackie Connor
  • Posted March 30, 2017

Ambry Talks Plans for Personalized Genomic Test Launch, Third Annual Trivia Night a Hit

On Thursday evening, March 23rd, an audience of more than 100 genetic counselors and geneticists from across the United States listened to Ambry Genetics’ Clinical Genomics Marketing Manager Layla Shahmirzadi, MS, CGC, discuss plans to launch a personalized genomic test for healthy individuals.  The talk took place at Events on Jackson venue …


  • By David Dubin
  • Posted March 30, 2017

Since You Asked, Here's My Advice to Cancer Patients

In my role as co-founder of AliveAndKickn, people ask me for my opinion all the time.  Topics range from how to manage pain, how to navigate post-cancer survivorship, to whether or not the U.S. will ever become a world soccer powerhouse.  (No, I’m not kidding.)  I’m not big on giving advice, but I try to answer as honestly as I can.   First, …


  • By Jackie Connor
  • Posted March 30, 2017

Dr. Rachid Karam Discusses Variant Classification at 2017 ACMG Annual Meeting

Actionable medical results are often a key component in deciding a patient’s medical management and specialized treatment options. However, some genetic test results can have unclear implications or Variants of Unknown Significance (VUS), which can often affect a clinician’s medical management plans for their patients. During the 2017 ACMG …


  • By Kory Jasperson, MS,CGC
  • Posted March 23, 2017

How Expert Care Teams Can Help You - Repost

Editor’s Note: In recognition of National Colorectal Cancer Awareness Month, we are re-posting this piece by an Ambry genetic counselor. His many years of clinical experience working with families affected by hereditary colorectal cancer helped him understand the importance of expert care teams, and how they can help you. My name is …


  • By Bill Rotter
  • Posted March 16, 2017

Why I Liquidated my Business to Advocate for Male Breast Cancer Awareness

Several years prior to my breast cancer diagnosis, I started to think about the right time to liquidate my business and sell the real estate. At the time, my brother and I owned two Ace hardware stores in the Milwaukee area with approximately 100,000-sq. ft. of retail space, warehouse and offices. I knew it would be a physically daunting undertaking …


  • By Jackie Connor
  • Posted March 14, 2017

Four Reasons Why Genetic Testing Matters to the Individual with Colorectal Cancer

Colon cancer is the third most common cancer diagnosed in both men and women in the United States, and more than 95,000 new cases of colon cancer and 39,000 new cases of rectal cancer are estimated for 2017, according to the American Cancer Society. Up to 10% of colorectal cancer is hereditary, or caused by inherited gene mutations. Hereditary …


  • By Selvi Palaniappan, MS, CGC
  • Posted March 9, 2017

Individual Genetic Test Results Lead to Individual Considerations

As a genetic counselor specializing in cancer genetics, I’m happy to be contributing to the Ambry patient blog during National Colorectal Cancer Awareness Month. Colorectal cancer can happen by chance, but it can also be inherited. Your doctor or genetic counselor can evaluate your family history to determine if you should consider genetic testing …


  • By Jackie Connor
  • Posted March 2, 2017

RNA Labs—How they Impact the Medical World

Ribonucleic Acid, otherwise known as RNA, is the messenger that carries instructions for controlling the synthesis of proteins from Deoxyribonucleic Acid (DNA). The central dogma of molecular biology states that “DNA makes RNA makes protein."  However, for the proteins, which are the final product, to work properly, the RNA needs to be “edited," …


  • By Georgia Hurst
  • Posted March 2, 2017

March is Colorectal Cancer Awareness Month- Do you Know About Lynch Syndrome?

In honor of Colorectal Cancer Awareness Month, I would like to discuss the most common cause of hereditary colorectal and uterine cancer – Lynch syndrome. In fact, this post is dedicated to my brother Jimmy, who died of colon cancer due to Lynch syndrome at the age of 36. Lynch syndrome is a hereditary cancer condition passed down …


  • By Jackie Connor
  • Posted January 18, 2017

'AmbrySpeaks' Tour kicks off in Los Angeles

Ever since our initial publication of Sanger sequencing confirmation was featured in The Journal of Molecular Diagnostics, in addition to our accompanying presentation at the National Society of Genetic Counselors conference last fall, Ambry has been touting our superior scientifically-proven genetic testing. Now we are bringing the message that …


  • By Tameron Harvell, MSN, RN, FNP-BC
  • Posted December 22, 2016

You're Not To Blame

Editor’s Note: We are re-posting this entry by Tameron Harvell, a registered nurse practitioner, to raise the profile of “survivor’s guilt”  an issue that can be particularly challenging during the holidays. You’ve just received your cancer genetic testing results and no mutation was found! What a relief …


  • By Theresa Smith
  • Posted November 10, 2016

These Are My Genetic Test Results… Please Don’t Shoot the Messenger

Editor’s Note: We are re-posting Theresa Smith’s entry to tie in with National Family History Day on Thanksgiving in two weeks in the U.S. Theresa was kind enough to update her piece on the importance of sharing family history and genetic test results, as challenging as it may be at times. Check back here in two weeks …


  • By Jackie Connor
  • Posted October 20, 2016

Ambry Supports Breast Cancer Awareness Month throughout October

  In honor of Breast Cancer Awareness month, Ambry is proud to support many non-profit foundations and organizations, including the Mauli Ola Foundation’s 3rd annual Battle for the Breasts (B4TB). The B4TB is an online surf contest featuring 16 professional women surfers who are each paired with cancer clinics and/or foundations. Each …


  • By Jackie Connor
  • Posted October 19, 2016

What is a Genetic Counselor?

Throughout the healthcare industry, it is known that genetic counselors play a vital role in the care and treatment of patients. Genetic counselors guide patients through the genetic testing journey and provide them and their primary care physician with detailed explanations of their test results. Check out our video that takes potential patients …


  • By Jackie Connor
  • Posted October 12, 2016

New Study Reflects Need for Genetic Testing for Prostate Cancer Patients

The New England Journal of Medicine (NEJM) recently released a study, which concluded that 11.8% of metastatic prostate cancer cases were caused by germline gene mutations leading to hereditary prostate cancer. The study involved 692 men from the United States and United Kingdom who have documented metastatic prostate cancer. Eighty-four germline …


  • By Cynthia Rigali Lund
  • Posted September 29, 2016

In The Beginning: My Ovaries Were Talking, but I Wasn't Listening

What a perfect time to begin my story — we are in the middle of National Ovarian Cancer Awareness month, as well as National HBOC (hereditary breast and ovarian cancer) Week. I love when things line up like it was all meant to be… Things did not line up for me in October of 2012. While preparing funeral arrangements for my dad …


  • By Michelle Jackson
  • Posted August 4, 2016

And Now, A Little Something For the Men Facing Hereditary Cancer

As a female genetic counselor, I can say I have counseled many men regarding their risk for hereditary cancer.  I have seen the different reactions and responses they have had. I have looked for different information (from what I provided to females) to give to them, if it will help. I cannot say I have any idea what it is like to be a man …


  • By Carin Espenschied
  • Posted August 3, 2016

How Laws Protect Genetic Information

There are many different things to consider when deciding whether to have genetic testing.  In addition to the impact of the test results on your physical and emotional health and that of your family members (more on that here), you should also consider your insurance coverage and the possibility of discrimination. When I met with patients …


  • By Tara Namey, MS, LCGC
  • Posted July 28, 2016

What to Expect Regarding Your Health Care Following the Identification of a BRCA1 or BRCA2 Gene Mutation

When you learn that you have a BRCA1 or BRCA2 gene mutation, there are naturally questions as to what this will mean for your ongoing medical care and what you will need to do differently.    The initial conversation with your healthcare provider will likely include a discussion about the options available to more carefully …


  • By Carin Espenschied
  • Posted June 8, 2016

What Happens When I Get My Test Results

Learning the results of genetic testing can be a stressful experience for some, but it also has the potential to be empowering.  If you are waiting for your genetic test results to come back or are considering having genetic testing in the future, hopefully the information in this blog will ease some of the concern you may be experiencing. …


  • By Georgia Hurst
  • Posted June 6, 2016

The Importance of Genetic Counseling With Genetic Testing

As I sit in the hereditary cancer trenches, I see the negative effects of genetic testing sans certified genetic counseling every single day – and it is an enormous problem. Many of the fears and concerns that people discuss with me could be addressed and ameliorated simply if they spoke with a certified genetic counselor before …


  • By Carin Espenschied
  • Posted May 16, 2016

Adding Gastrointestinal Cancer Topics to our Blog

My name is Carin and I’m a genetic counselor at Ambry Genetics. I’ve been working at Ambry for about 2½ years and before that I worked as a clinical genetic counselor seeing patients at a cancer hospital for over six years. I have always had a special interest in hereditary gastrointestinal (GI) cancers. Gastrointestinal cancers, …


  • By Georgia Hurst
  • Posted May 9, 2016

No Mud, No Lotus

Zen master Thich Nhat Hanh believes if people face and embrace their suffering, they will eventually grow from it and possibly turn it into something beautiful and meaningful... Hence the phrase: No mud, no lotus. Five years ago after I was diagnosed with Lynch syndrome, I found myself mired in mud – I had no idea what would emerge …


  • By Theresa Smith
  • Posted April 28, 2016

What About The Men? Time For Us To " Man Up"

For a woman being diagnosed with a BRCA2 gene mutation, there is a ton of information specific to cancers for women, but what if you are a man? The amount regarding male breast cancer, hereditary prostate cancer, and hereditary pancreatic cancer is limited. In addition, public awareness about these conditions is limited. Considering …


  • By Bill Rotter
  • Posted April 26, 2016

Sharing My Diagnosis and Genetic Testing With Family and Friends

While it’s difficult for anyone to come to grips with a cancer diagnosis, it becomes more challenging having to share the news with family and friends. Especially when you are a man telling them you have breast cancer. People may look at you with a deer in the headlights stare….men get breast cancer? This was the reaction from many, as …


  • By Theresa Smith
  • Posted April 22, 2016

Previvor’s Perspective – A Daughter’s Feelings

It was a year after I had tested positive for the BRCA2 gene mutation before I found out about the status of my three children. My oldest, my son, and my youngest daughter were both negative (huge relief). My middle daughter, Jenna, unfortunately tested positive for the same mutation I have. She is 23 years old now and is graduating …


  • By Michelle Jackson
  • Posted April 14, 2016

Male breast cancer is rare, but it’s not that rarely inherited

When I was a clinical genetic counselor, I met with many men who had been diagnosed with breast cancer for genetic counseling and genetic testing. Counseling male breast cancer patients about genetics was often very different for me than counseling female breast cancer patients. I think the main reason for that is men and women are different and …


  • By Carin Espenschied
  • Posted March 24, 2016

How Laws Protect Genetic Information ( Original)

There are many different things to consider when deciding whether to have genetic testing. In addition to the impact of the test results on your physical and emotional health and that of your family members (more on that here), you should also consider your insurance coverage and the possibility of discrimination. When I met with patients as …


  • By Theresa Smith
  • Posted March 22, 2016

Hang on a Minute, Let’s Think This Through

After testing positive for a mutation in my BRCA2 gene, I was on high alert. I rushed to all my doctor’s appointments and gathered a lot of information regarding preventive surgery options. I also did a lot of research on the statistics and newer medical studies regarding BRCA1 and BRCA2. I evaluated everything based …


  • By Deepti Babu, MS, CGC
  • Posted March 10, 2016

It's Complicated: Sharing Your Genetic Test Results (Original)

I feel funny writing about sharing genetic test results when I’ve never done it myself, but don’t let that stop you from reading… I’ll draw upon my years in the clinic as a genetic counselor, speaking to many families about this topic, and offer thoughts from my side of the table. I have seen that it’s complicated for some families, …


  • By Eve Mart
  • Posted March 1, 2016

Being a Survivor Doesn’t Mean You Can Ignore Me

My mom was first diagnosed with breast cancer in 1989, when breast cancer was still whispered about and long before Angelina Jolie put genetic testing on the Hollywood map. My mom complied with the treatment recommended for her at the time, which included a lumpectomy, chemotherapy and radiation. Eighteen years later, in 2007, I was 34 years old …


  • By Dr. Robina Smith
  • Posted February 18, 2016

Following Positive/High Risk Patients and Survivors

According to the National Cancer Institute SEER (Surveillance, Epidemiology, and End Results) stat fact sheet on female breast cancer there were an estimated 12.3% of women living with breast cancer in the United States in 2012. 98.6% of breast cancer survivors diagnosed with early stage breast cancer are alive after 5 years or more. As early …


  • By Jessica Profato, MS, CGC
  • Posted February 4, 2016

Coping with Cancer: 5 Lessons from my Patients

As a clinical genetic counselor, a big part of my job was educating my patients about the basics of genetics and hereditarycancer. Another equally, if not more, important part of my job was to talk to them about how a diagnosis of cancer, a positive genetic test result, or a combination of the two was impacting their life and those of their …


  • By Eve Mart
  • Posted February 2, 2016

Healthy Habits, Healthy Mind

The funny thing about ‘healthy habits’ is that you can do everything ‘right’, but there are no guarantees in life. For me, breast cancer is hereditary. he·red·i·tar·y Something (like a health problem, like cancer) that is due to inherited genetic changes (mutations), which can be passed from parent to child.  I have a BRCA1 gene …


  • By Theresa Smith
  • Posted January 26, 2016

You want to take my ovaries out?

I was diagnosed with a BRCA2 gene mutation on August 1, 2013. My surgery for a complete preventive hysterectomy (to remove my ovaries, Fallopian tubes, cervix, and uterus) was just six weeks later on September 11. I requested to undergo BRCA1/2 genetic testing as a “tie breaker” to help me decide if I should have the surgery, …


  • By Theresa Smith
  • Posted January 14, 2016

Watching and Waiting for Cancer

So I met all the doctors. What now? All the information and options were given to me, and it was overwhelming, to say the least. I was considering both preventive surgeries (full hysterectomy and preventive bilateral mastectomy (PBM) with reconstruction). I was playing the “odds versus timing” game in my head: “If I wait until I’m X years …


  • By Eve Mart
  • Posted December 22, 2015

The Results of Genetic Testing Impacts Lives

Before my breast cancer diagnosis, I had a brief conversation with my OB/GYN physician regarding my potentially increased breast cancer risk. I was coming up on my 35th birthday, and thought it might be responsible to schedule a baseline mammogram. I don't recall anything remarkable about that conversation with my doctor. She provided me with …