My husband and I had just landed in Miami after a week in Grenada for our honeymoon when I got the call. As I held the phone to my ear in the noisy airplane terminal, I struggled to hear what my only sister Jannine was telling me over the flight announcements. She said she would have called earlier but didn’t want to ruin our honeymoon with the news.
“The news.” My heart sank as my mind raced through all the horrible scenarios. Compared to their peers, my parents had been relatively healthy for being in their upper eighties, only taking cholesterol medication and baby aspirin. We, unfortunately, lost my mother rather suddenly the previous year due to complications after a fall and a broken hip. Did something happen to my dad?
“I found an odd bruise on my leg last week,” she said. “I hadn’t remembered hitting my leg on anything, so I went to my doctor to have it looked at.” My sister was always in tune with what her body was telling her and, unlike others, she listened. “I have acute myeloid leukemia”, she blurted.
What!? I found it hard to comprehend what she was telling me. Jannine was the picture of health. While I craved sweets, she craved salad. In my opinion, the single best food on this planet is a warm, dark chocolate chunk cookie with sea salt mixed in the batter – it simply cannot be beaten. My sister, on the other hand, would choose a chopped salad over sweets any day of the week, and her physique reflected those choices. She was a lean and beautiful 63-year-old woman at the time of her call, and I could not wrap my head around what she was telling me. Leukemia? No. The only person I knew that had leukemia was a classmate of mine back in second grade who unfortunately passed away, and all I could remember was her looking incredibly sick.
And so, my sister’s difficult treatment journey began. Anyone who has had a relative with advanced cancer has seen the toll chemotherapy takes on the body and the spirit. After a grueling 18-month battle with AML, a number of hopeful experimental treatments, and even a bone marrow transplant from one of my brothers, my beautiful sister was gone. My family grieved the loss of the light of our family so young. Although we were 14 years apart in age, I had a special relationship with my sister, and we were very close. She was the one I called first to cry about the death of my dog, my divorce, my newly found love and so much more. She left a huge hole for me and the rest of the family, but mostly my dad who had just buried his wife and now a daughter.
Jannine (back) posing in her cheerleading uniform with little sister Michele
I am the youngest of six children. You read that right – SIX kids, four boys and two girls. We were a midwestern catholic family and back then, having six kids was relatively normal. The thought of raising six children today is unfathomable to me; after two kids it was pretty clear that a zone defense with a third would fail, so I called it quits with two and stuck to man-to-man. I don’t know how my parents did it with six.
I wish I could say Jannine’s battle was a fluke occurrence in my family, but not four years later, I got another call from my brother, Dave. Dave and his wife, Barb, lived next door to my parents when I was in high school, so we were also very close. There was a time when Barb and I would walk seven miles a night after work in the summer, walking all over town and talking for hours. She is my “sister from another mister”, and Dave was the cool big brother who took me under his wing, allowing me to tag along to his basketball games with his friends and nurturing a love of basketball that has stayed with me ever since.
Through their tears, Dave and Barb asked me if I could help tell our dad some difficult news. What started as gastrointestinal discomfort was quickly determined as much more, and Dave had just been diagnosed with Stage 4 pancreatic cancer. My heart sank again. I knew a pancreatic cancer diagnosis was bad news. Pancreatic cancer is difficult to detect, and it is commonly discovered after it has already spread to other areas of the body.
Dave was bigger than life. Literally – the man was 6 foot 7 inches tall and weighed about 275 pounds. He had a HUGE heart and shared his joy of life widely with everyone. He would call our dad every day on his way home from work to check in on him. Dave and Barb even opened their home to all of their kids’ friends, sharing meals together and hanging out while watching the game. I watched Dave shrink to a fraction of his former self in both size and exuberance, while Barb’s fear grew as she was losing her high school sweetheart and partner. Almost a year to the day after he received his diagnosis, Dave passed. It was heartbreaking for all of us, but especially my 93-year-old dad. No one should have to bury a child, and my dad has now buried two.
Dave holding little sister Michele when they were children
With the second shocking cancer diagnosis of an otherwise healthy sibling, the alarm bells rang for the rest of us. My brothers immediately sought genetic counseling and had cancer test panels run through Invitae. Combined with the genetic testing that was done during both of my deceased siblings’ treatment plans, family genetic maps were drawn and common cancer variants in the POLE, CHEK2, PDGFRA, and APC genes were identified in my brothers. Genetic counselors assured them that the presence of a variant doesn’t mean that cancer is an inevitable outcome, but rather their odds of getting certain types of cancer simply increased. My brothers’ test results indicated that our family has a higher risk for prostate, colon, and breast cancers.
It took me a little longer, but I finally had my genetic testing done a few months ago, nearly 2 years after my brothers. I was surprised by how affordable it was: for $350* I would receive genetic counseling and a panel with results of 91 genes that would be analyzed. My genetic counselor suggested that I have my panel run through Ambry Genetics which now offers expanded RNA analysis in addition to DNA variant testing as part of their cancer panel. My counselor advised that the RNA analysis helps classify DNA variants associated with cancers of the breast, prostate, colon, pancreatic, and more, and can also identify variants not detected by the DNA approach alone. In addition, this paired DNA and RNA testing decreases the variants of unknown significance. Having an additional line of functional evidence can help determine whether the variant of unknown significance is more pathogenic or benign.
With the knowledge of our family history and the genetic test results of my siblings, not knowing my own situation had been slowly eating away at me for the past few years. I am one of those people that needs to know. You can’t hint at something you’ll tell me later and not tell me right then – it drives me nuts. My mind races around trying to figure it out and frequently lands somewhere dark and dismal. Consequently, my mind had already decided that I would test positive for the variants the rest of the family had, and I was well down the path of planning for my kids to have whole exome sequencing and genetic testing done.
The myriad of potential outcomes of my results crossed my mind daily for the three weeks I waited until my next appointment with the geneticist. I chose to utilize the Telehealth option for my follow-up appointment, and my anticipation grew as I sat in the virtual waiting room awaiting my counselor’s arrival. In my mind, I was way past whether or not I had genetic variants; I was already losing my battle with cancer, thinking about my kids’ weddings I wouldn’t see and the grandchildren I would never meet.
“Michele?” the genetic counselor queried as she pulled me from the depths of my thoughts. She shuffled through her papers as I waited impatiently. “Your genes look great,” she said.
What!? Once again, I wasn’t sure what I was hearing. A HUGE wave of relief washed over me as I listened to her explain that there were no significant variants evident in my results obtained through whole exome sequencing. She asked me some more lifestyle-related questions about weight, height, whether I smoked, how many drinks a week I had, etc. She said even with the extensive history in my family, I was at a low risk for cancer. It can still happen, but I am at no higher risk than other healthy people. A stark contrast from the calls I received from my sister and my brother, the phone calls I made to my kids and my dad to discuss the results were joyous. After spending so much time assuming and expecting the worst, I have now been able to revert to the annoying mother who prods her kids to find a great partner with whom to share their life, so I can be a part of their wedding and future grandmother to their own children.
Family Photo – Jannine is on the far right, with Dave standing right next to her. Michele is held in her mother’s arms
My dad turns 95 in about a month, and we are throwing a big bash to celebrate his life. I’ve noticed that extended families tend to get together more often for funerals than celebrations as we age. Our dad is one in a billion and we want to share time with him and each other while he is still here to enjoy it. The next step for us as a family is to have him undergo whole-exome sequencing and genetic testing. Since our mom didn’t get her genetic results before she passed, testing our dad is important because it will give us the clues we need to keep our extended family informed regarding their own health. If my dad ends up having some of the same variants as my siblings, we can let his two living sisters know so they can pass that information down to their children. Conversely, if my dad’s genetics are clear, then we know the genetic issues come from my mom’s side, and we can reach out to our cousins to give them a heads-up.
I am in awe of the recent developments in genetics and the promise of personalized medicine to come. Great strides have already been made in identifying genetic variants tied to all sorts of conditions and diseases, enabling tailored therapeutics and medicines to extend life and quality of it. Almaden Genomics and our g.nome® bioinformatics software is accelerating genomic discovery, helping our customers make scientific breakthroughs faster and bring new products and services to market more quickly. Historically, building a bioinformatics workflow has been code-heavy, difficult to understand by anyone other than the bioinformatician, and time-consuming to build, test, and deploy. Not anymore. Almaden’s g.nome platform does all the heavy lifting. With an intuitive drag-and-drop pipeline builder utilizing a library of curated toolkits, anyone on the team with a biology background can build workflows in a matter of hours – meaning the bioinformatician can focus on the science instead of the code, and our customers can deliver results faster and more reliably. I personally am excited about what this can mean for the development of diagnostics, therapeutics and genomic medicines in the identification of and treatment of cancer.
According to cancer.org, it is estimated that in 2022, over 1.9 million new cases of cancer will be diagnosed in the U.S., resulting in over 600,000 deaths. That is a lot of phone calls no one wants to make or receive. The good news is that the rate of cancer in the US is declining. The CDC reports that from 2001-2020, cancer diagnoses dropped by 27%, but it remains the second leading cause of death behind heart disease globally.
According to my husband, I am a workaholic. I admit, that I enjoy the stimulation I get through finding solutions for complex problems across a variety of industries. Until now, I have been relatively agnostic about what industries or areas in which I work; I just get a thrill out of driving revenue and profits for the business. With the addition of Almaden Genomics to the Catalyze Dallas portfolio, I now realize how additionally powerful it can be to have a true personal incentive tied to the success of your customers and the industry as a whole. I am hopeful and excited about the future developments our customers will make not only for humankind but especially for my family, my friends and my coworkers. I feel so fortunate to be a part of it.
I was inspired by my new professional association to share this story and how genetic testing and genomic sequencing is enhancing the lives of my remaining family. We are still educating ourselves on the risks that lie within our genome, but knowing is half the battle. For me, the $350 was a no-brainer. I can’t stress enough how removing the unknown itself through genetic testing gives you peace. Knowing that you are at a higher risk for certain types of cancer is oddly comforting because it allows you and your doctors to tailor the approach for your specific circumstance and catch cancer earlier, or perhaps modify diet and other environmental factors to avoid it entirely. I hope the next life-changing call I receive will be from my son or daughter telling me they have found their soulmate and are getting married… grandkids can’t be that far behind, can they?
Michele is the Chief Marketing Officer for Catalyze Dallas and Almaden Genomics. She lives in Texas with her husband and overly needy Rhodesian Ridgeback, Vern. Click to learn more about Almaden Genomics and the g.nome platform.
* My understanding is that patients with siblings or parents that have genetic variants identified pay nothing for their tests as long as they are done within a specific time period.