We know there are healthcare disparities among racial and ethnic groups; these disparities also impact genetic testing. Research and clinical studies have lacked diverse representation and have been predominantly composed of people with European ancestry. As rates of testing have rapidly increased, this gap has only widened. This means much of …
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, …
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 …
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 …
When Jaime Burguieres was young, her 43-year-old maternal aunt was diagnosed with breast cancer. Burguieres watched her vivacious aunt go through painful radiation and chemotherapy treatments that seemingly eradicated her cancer at the time. A few years later, her aunt was diagnosed with Non-Hodgkin’s Lymphoma in the breast, stomach, and hip, …
An estimated 266,000 women and 2,500 men will be diagnosed with breast cancer this year alone, and up to 10% of these may be hereditary. That’s over 26,000 patients and families whose lives could be significantly impacted by genetic testing, which can help guide personalized risk counseling and medical management. Multigene panels, like BreastNext, …
Throughout the month of June many 5ks will be run, fundraisers and educational fairs will take place, and blue will be worn, all in the name of Men’s Health. In the U.S., June is designated as Men’s Health Month while June 11-18 is recognized internationally as Men’s Health Week, with goal of both to “heighten the awareness of preventable …
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 …
Identifying patients with hereditary cancer is critical, so that you can gather additional information for personalized risk counseling and management planning. The first step is to use personal and family history information to find out which patients may be candidates for genetic testing. With tools like our hereditary cancer questionnaire, …
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 …
*Editor's Note: This Pancreatic Cancer Awareness Month, Ambry's Creative Director, Michael Squier, is sharing memories and lessons learned from his grandfather, who lost his battle to pancreatic cancer. Ambry encourages everyone to know their family history of cancer. If someone in your family has pancreatic cancer, you could be at an increased …
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 …
*Editor’s Note: June is National Cancer Survivors Month, and Ambry Genetics will be celebrating cancer survivors as well as their families and communities by sharing their inspiring stories. Although part of me wants to forget, I hear the whispers every day. As a cancer survivor of 4 ½ years, June is a special month that commemorates …
Did you know that more than 1 in 4 of those with Lynch syndrome (LS) are missed by current genetic testing guidelines? New research from Ambry Genetics and Ohio State University of nearly 35,000 patients will change how the genetics community thinks about genetic testing strategies, lifetime cancer risks, and medical management for people with …
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 …
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 …
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, …
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 …
Cancer is an equal opportunity disease: It affects people regardless of age, gender, socioeconomic background or race. One day, you may be walking along, seemingly healthy as a horse and the next day—you’re diagnosed with cancer. Your outlook may be bleak; it might be optimistic. Either way, as the person diagnosed, it’s a feeling of being …
Editor’s Note: At a time when we might consider the year ahead, we thought it helpful to re-post this entry from Theresa Smith, patient advocate, who offered her "next steps" after learning at age 45 that she carried a BRCA2 mutation. Sharing the news about my genetic test results with my immediate family was tough. I'll offer …
Editor's Note: At this time of reflection as we begin the new year, we are re-posting this piece by an expert in digital media/communications to offer you guidance when navigating social media during a journey with cancer or other health issue. Today, hectic work schedules and other increasing demands on everyone’s time mean we …
The new year leaves me contemplating where I am now, and where I have been to get here. When I discovered I had Lynch syndrome more than five years ago, I was absolutely horrified and developed death anxiety. Every single aspect of my life became magnified. I could not help but feel as though a ticking time bomb had been strapped to my back – …
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 …
I am, appropriately, finishing this post on Family Health History Day (the fourth Thursday in November, formerly known as Thanksgiving in the U.S.). The holidays are traditionally a time to get together with family, and what better time to focus on the importance of the health history? In this spirit, I thought we could focus on how a discussion …
Editor's Note: This is a continuation of Cynthia's initial experience of being diagnosed with hereditary ovarian cancer in 2012, which she began to tell us in her post from September 29, 2016. With an October diagnosis, the holiday season was going to be a new experience for our family of five. Although difficult in many ways, …
Today is Thanksgiving in the U.S., and many of you will be spending a lot of time with your family – this is a stellar time to discuss collecting your family’s medical history. Multiple generations are usually present at holiday gatherings and the elders can be great sources of information about your family’s medical history. Recognizing …
Editor’s Note: We are re-posting this entry by Emily Dalton, a certified genetic counselor, as National Family History Day approaches next week. Check back here to get tips from a patient advocate about collecting your family’s medical history. We’ve all heard that genetics plays a big role in the development of cancer, including …
“Superhero.” Has a nice ring to it, doesn’t it? Flattering, obviously. As someone who has survived multiple cancers, still plays and coaches soccer, had his colonoscopy footage used on national television, and does a lot of public work, I’ve been given a few titles. One of them is superhero. Thanks. But I worry that people, especially …
Editor’s Note: In honor of Metastatic Breast Cancer Awareness Day, we are re-posting Eve Mart's piece on metastatic breast cancer to share her perspective as a patient advocate. Please share to help spread awareness. During the past 30 years, there has been a cultural shift in breast cancer advocacy and awareness activities. An …
Editor’s Note: In honor of Breast Cancer Awareness Month, we asked a Physician Assistant with years of experience in the field to tell us about a little-known form of breast cancer from the healthcare provider’s perspective. Next week’s post will focus on this issue from the patient advocate’s side of things. Please share to help …
We’ve covered a lot of territory with this blog, so thank you for coming on the ride with us. Theresa Smith talked about her experience of sharing her genetic test results with her family, and we offered a genetic counselor’s perspective on the same idea. This time, we’re focusing more on you – we’re exploring the idea of building …
Soon after completing all of my treatment for male breast cancer I knew I was determined to stay on top of my cancer going forward. I know there are many advancements in finding cures for all types of cancers and I am committed to learning everything possible about my cancer diagnosis. Whether it happens to be in the area of new drugs …
Today, thanks to hectic work schedules and other increasing demands on everyone’s time, we are turning to social media for human interaction outside of the workplace. In turn, social media has become an important place for many to find others they can bond with over shared interests and experiences. As blogger Eve Mart pointed out earlier this …
I’ll be the first to admit, I don’t read many blogs or follow people’s cancer experiences on social media, but I do see the value in them. Networks built around cancer – whether through Facebook, Twitter, blogs or hosted communities – have a particularly active presence in healthcare social media. During the past few years, through Facebook, …
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 …
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 …
After cancer treatment, I was so relieved to be finished with the demands of treatment and ready to put the experience behind me. Ironically, I found myself feeling uncertain with what my future held. I was so fixated on a magic number… five years. In my mind, if I could just get five years out from treatment, I would be magically cured and the …
My name is Tiana Adams, and I am a practicing Physician Assistant with 18 years of clinical experience. During this time I have worked in many specialties, including Family Practice, Urgent Care, Occupational Medicine, Orthopedics and Breast Cancer Surgery. Currently, I am the Oncology Operations Specialist at Ambry. Moving into this role is …
Colonoscopy is central to the care plan for families with hereditary colorectal cancer (CRC) syndromes, as Georgia Hurst mentioned in her earlier post. Colonoscopic screening is the major means for prevention and early detection of CRC in this setting. It is worth highlighting what you can and should expect when getting a colonoscopy. It …
When you go to an appointment with your healthcare provider, what do you expect? Information. Discussion. Compassion. Maybe a plan. And for good measure, a joke or two? That’s what I expect, anyway, when things are going well. That combination definitely shifts if things aren’t going well with my health. Then I expect to learn facts, offered …
It might seem difficult to comprehend, but I think cancer taught me a number of profound life lessons that few people realize until it’s too late. I don’t think I stand alone in that thought. In the face of breast cancer, I’ve seen many women show remarkable strength and do things even they never thought they could do. “You never know …
If you have been diagnosed with an inherited colorectal cancer syndrome, your healthcare provider may have recommended that you consider having risk reducing surgery. Risk reducing colectomy is the removal of part (partial colectomy) or all (total colectomy) of the colon to reduce the risk of developing future cancer. Risk reducing hysterectomy …
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. …
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 …
It has been mentioned in previous posts that there is limited awareness about the fact that men can get breast cancer, and that this limits the options men have for support. It only makes sense for us to consider how we in the medical community, as well as society in general, can do a better job of this – raising the profile for male breast …
I was diagnosed with breast cancer at a relatively young age. I had just turned 35 years old. I went to the gym every day and was seemingly healthy and fit, and now I had been diagnosed with breast cancer. What was I going to do? I never considered myself a vain person until faced with decisions that would mean losing my hair and my breasts, …
My name is Kory Jasperson. If you asked my friends or family to tell you something about me, they’d probably tell you I’m an adrenaline junkie. They all know how much I love jumping out of perfectly good airplanes, off the tops of buildings, and even off the peaks of mountains or cliffs. Although some of my colleagues may reiterate the …
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, …
Did you know that the third week in October is Male Breast Cancer Week and the male breast cancer ribbon is pink and blue? Most people do not, just as most are surprised to learn that men can even have breast cancer. Unlike female breast cancer, male breast cancer (MBC) is rare, accounting for about 1% of all cancers diagnosed in men. For men …
In my opinion, every guy should have the experience of having a mammogram at a women’s clinic… never. When I think back in my lifetime to all the uncomfortable experiences I have encountered, few can rival walking into a clinic designed for women to have a mammogram. From the moment I walked in, I knew this would be a life-altering series …
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 …
I would imagine it’s normal to face some degree of depression, anxiety, and fear when cancer becomes a part of your life. I have always felt lucky that my cancer was caught early enough that the doctors were able to get it all out with my surgery and 8 chemotherapy treatments. I continued to undergo ovarian cancer screening until having …
As a breast cancer survivor I think I experience a bit of Survivor Guilt. I occasionally wonder, “Why me and not them?” Or rather, why hasn’t this disease been eradicated yet and why aren’t we ALL survivors? It hurts me to the core to know that I will lose more friends and possibly even my mother to the same disease that I have been …
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 …
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 …
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 …
As I said in my last post: ”Breast cancer survivors share a connection, and I’ve come to learn that in some unconscious way by helping others, I’m helping myself to heal and spin a positive out of something that was negative.” This past weekend, I had the honor of ride marshaling at the Young Survival Coalition’s (YSC’s) inaugural Tour …
Dealing with your own BRCA1 or BRCA2 genetic testing results is one thing, but worrying about testing for your children is another. Especially when they are under 18 years old. There is a very real possibility that people will have to wait for years for their kids to find out if they are positive or negative for the mutation. There …
When I was a clinical genetic counselor, each patient that I met with for genetic counseling had some different questions about how their positive genetic test results could impact their care or that of their family members. A common theme among patients who had children was that they wanted to know if, when, and how their children should …
In several of our posts, the importance of support throughout one’s cancer journey has been discussed. Eve Mart has discussed how she received support from friends and family following her diagnosis of breast cancer, as well as her experience providing support to others. We’ve also offered thoughts from a healthcare provider’s perspective, …
I hadn’t set out to be the “go-to-girl” for all things breast cancer, but when you’re faced with a challenge and come out on the other side fairing pretty well, I think people trust you. Maybe they’re just looking for positive support wherever they can, when they find themselves in a similarly difficult spot. It starts with a phone …
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 …
I’m not sure which is more painful, fighting your own cancer battle or supporting a loved one through it. I’ve been on both sides of the fence and still cannot answer that question. Support for me came in a variety of forms and in varying degrees from virtual strangers on internet message boards, acquaintances, co-workers, friends, and family. …
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, …
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 …
I did finally come to terms with my decision to have a preventive bilateral mastectomy to lower my risk of breast cancer from my BRCA2 gene mutation. I was scheduled with my surgeon, but I was put on a rolling schedule, which meant my date was not set in stone. I asked at what point I got to keep my surgery date, instead of my date being …
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 …
Being a breast cancer survivor isn’t a static label. For me, being a breast cancer survivor has added another layer to the person I am and have become, and that has been an evolutionary process. It took time to get my energy back, but I now happily maintain a very active lifestyle. Again, it took time, and patience was not my strong suit. …
Whether a woman is facing the decision to have breast surgery as a treatment option for cancer or she is being proactive and having a preventive procedure done to reduce the risk of ever having cancer, the decision is not an easy one. Surgery can be a frightening experience for some people, and rightfully so. Although surgery is designed to physically …
When I was offered the option of having a preventive bilateral mastectomy, it was so overwhelming. I couldn’t think about. I couldn’t talk about it with anyone. I didn’t research the procedure. I just put off thinking about it entirely. I couldn’t handle it emotionally, and the thought of what it would do to me physically was very scary …
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 …
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 …
To this date, we cannot totally prevent cancer from forming; however, for certain cancers we can reduce the risk of it developing. Approximately one half of cancer cases can be prevented by modifying risk factors or by early detection of precancerous lesions. For breast and ovarian cancers, approximately 10% will develop due to hereditary predisposition. …
Several years ago when I was a new genetic counselor, doe-eyed and fresh out of grad school, I made sure certain topics came up in every session I had with a family. I covered the facts: the family history I’d collected, a review of genetic patterns, and any genetic testing options the family needed to consider. I’d usually write down …