What is a Variant of Uncertain Significance?
05/07/22 • 8 min
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Have you been screened for a genetic predisposition towards breast cancer? I have. My results returned a "Variant of Unknown Significance", or VUS.
What is a Variant of Unknown Significance?
It’s a common question and I am pleased to have Dr. Mártir-Negrón, a medical geneticist at Miami Cancer Institute, part of Baptist Health South Florida, and trained in internal medicine, genetic diagnosis and the treatment of patients with hereditary disorders to help answer this question!
Laura: Dr. Mártir-Negrón, I understand when we get our genetic testing back and read through the results, sometimes we get what is called a variant of unknown significance, also referred to as VUS. Can you explain what this means and how it impacts breast cancer treatment decisions?
Dr. Mártir-Negrón: What a variant of unknown significance means is that there was a change that was found in you. But guess what, we all have changes in our genes; that’s what makes us unique and who we are. The only ones that we know will cause problems are the ones that we call pathogenic.
Based on data, we know that 90% of these inconclusive changes are benign. At the lab we'll continue to review, and when there is more data, they will reach out to whoever ordered the test to inform them of any new findings. The person who ordered the test is the one that is going to receive the reclassification. Again, 90% of the cases are benign, so we call it negative until proven otherwise.
In terms of treatment, we don't do anything with that information and no action is taken. But, if we give recommendations, it's not because of the inconclusive work, it’s what we're seeing in terms of one’s family history. With the inconclusive result, you're always going to have that change, you were born with that change. What it changes is our interpretation.
When we see that somebody has a variant of unknown significance or is inconclusive, we look at ClinVar. ClinVar is a part of the National Institute of Health and aggregates information about genomic variation and its relationship to human health. Obviously, no names or personal data are disclosed. What we do is when we see any inconclusives, we will look at ClinVar to see what all the labs are saying.
Laura Carfang: That's such a great point. ClinVar is a freely available public archive of human genetic variations and interpretations of the relationships to disease and other conditions.
Abigail Johnston: Just another reason why talking to the right doctor about the right topic is so important. Dr. Mártir-Negrón is a geneticist, you don't mind saying you don't know, whereas other doctors in other specialties often avoid saying "I don't know something" and it's very important to remember that.
Love the episode? Send us a text!
Have you been screened for a genetic predisposition towards breast cancer? I have. My results returned a "Variant of Unknown Significance", or VUS.
What is a Variant of Unknown Significance?
It’s a common question and I am pleased to have Dr. Mártir-Negrón, a medical geneticist at Miami Cancer Institute, part of Baptist Health South Florida, and trained in internal medicine, genetic diagnosis and the treatment of patients with hereditary disorders to help answer this question!
Laura: Dr. Mártir-Negrón, I understand when we get our genetic testing back and read through the results, sometimes we get what is called a variant of unknown significance, also referred to as VUS. Can you explain what this means and how it impacts breast cancer treatment decisions?
Dr. Mártir-Negrón: What a variant of unknown significance means is that there was a change that was found in you. But guess what, we all have changes in our genes; that’s what makes us unique and who we are. The only ones that we know will cause problems are the ones that we call pathogenic.
Based on data, we know that 90% of these inconclusive changes are benign. At the lab we'll continue to review, and when there is more data, they will reach out to whoever ordered the test to inform them of any new findings. The person who ordered the test is the one that is going to receive the reclassification. Again, 90% of the cases are benign, so we call it negative until proven otherwise.
In terms of treatment, we don't do anything with that information and no action is taken. But, if we give recommendations, it's not because of the inconclusive work, it’s what we're seeing in terms of one’s family history. With the inconclusive result, you're always going to have that change, you were born with that change. What it changes is our interpretation.
When we see that somebody has a variant of unknown significance or is inconclusive, we look at ClinVar. ClinVar is a part of the National Institute of Health and aggregates information about genomic variation and its relationship to human health. Obviously, no names or personal data are disclosed. What we do is when we see any inconclusives, we will look at ClinVar to see what all the labs are saying.
Laura Carfang: That's such a great point. ClinVar is a freely available public archive of human genetic variations and interpretations of the relationships to disease and other conditions.
Abigail Johnston: Just another reason why talking to the right doctor about the right topic is so important. Dr. Mártir-Negrón is a geneticist, you don't mind saying you don't know, whereas other doctors in other specialties often avoid saying "I don't know something" and it's very important to remember that.
Previous Episode
158. Hope: with Julia Maues and Christine Hodgdon
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Julia and Christine are both living with Metastatic Breast Cancer and share their personal experiences with breast cancer and how they live by example providing hope for those in our breast cancer community!
About our guests:
Christine Hodgdon was diagnosed with metastatic breast cancer in 2015. Christine brings a background in biology and nonprofit programming to her work of curating cutting-edge research and interfacing with patients and research partners. She has worked with leading research organizations, medical centers and government agencies to ensure the patient voice is represented early and often. She is also the founder of the Storm Riders Network, a website that shares the latest breast cancer research, treatments and clinical trials.
Julia Maués was diagnosed with breast cancer in 2013 while pregnant. Following the birth of a healthy baby boy, Julia did tests she couldn’t do while pregnant and discovered the cancer had spread to her brain, liver, and bones. After many treatment setbacks, her cancer began to respond to treatment. Cancer is part of Julia’s life, but it doesn’t define her. Her goal is to make an impact while she is alive in the lives of others dealing with this disease. She has found meaning and purpose in working with patients and researchers to make cancer research more patient-centered, innovative and inclusive.
Check out their website: https://graspcancer.org/about/
Surviving Breast Cancer Resources
Website: https://www.survivingbreastcancer.org/
Webinars, programs, and events: https://www.survivingbreastcancer.org/events
Articles: https://www.survivingbreastcancer.org/breast-cancer-blog
Next Episode
159. GRASP Cancer with Christine Hodgon and Julia Maues
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In today's episode we speak with Christine Hodgon and Julia Maues, co-founders of GRASPCancer.org. GRAPS connects advocates and cancer researchers to advance breakthroughs.
Welcome to the conversation!
About our guests:
Christine Hodgdon was diagnosed with metastatic breast cancer in 2015. Christine brings a background in biology and nonprofit programming to her work of curating cutting-edge research and interfacing with patients and research partners. She has worked with leading research organizations, medical centers and government agencies to ensure the patient voice is represented early and often. She is also the founder of the Storm Riders Network, a website that shares the latest breast cancer research, treatments and clinical trials.
Julia Maués was diagnosed with breast cancer in 2013 while pregnant. Following the birth of a healthy baby boy, Julia did tests she couldn’t do while pregnant and discovered the cancer had spread to her brain, liver, and bones. After many treatment setbacks, her cancer began to respond to treatment. Cancer is part of Julia’s life, but it doesn’t define her. Her goal is to make an impact while she is alive in the lives of others dealing with this disease. She has found meaning and purpose in working with patients and researchers to make cancer research more patient-centered, innovative and inclusive.
Listen to Part I:
https://www.survivingbreastcancer.org/podcast/episode/7a6d6bc3/158-hope-with-julia-maues-and-christine-hodgdon
About Surviving Breast Cancer:
SurvivingBreastCancer.org (SBC), a federally recognized 501(c)(3) non-profit organization, is to empower those diagnosed with breast cancer and their families from day one and beyond.
Learn More:
https://www.survivingbreastcancer.org/
Attend a support group, virtual program, workshop, and event:
https://www.survivingbreastcancer.org/events
Have a story to share, let us know!
https://www.survivingbreastcancer.org/submit-breast-cancer-story
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