Making Universal Screening for a Reality: The Lynch Syndrome Screening Network
March 22nd, 2012 11:35 am ET – From CDC
Deb Duquette, MS, CGC, Sarah Mange, MPH- Michigan Department of Community Health, Cecelia Bellcross, PhD, MS- Emory University, Heather Hampel, MS, CGC- The Ohio State University, Kory Jasperson, MS, CGC- Huntsman Cancer Institute
Authors are all from the Lynch Syndrome Screening Network (LSSN) Founding Board of Directors
flow chart individualEvery day, about 400 people in the United States are diagnosed with colorectal cancerExternal Web Site Icon. Approximately twelve of them have Lynch syndrome, a hereditary condition that increases the risk of colorectal cancer and other cancers. Identifying people with Lynch syndrome could have substantial health benefits for them, their families, and communitiesExternal Web Site Icon.
Lynch syndrome is the most common hereditary cause of colorectal and endometrial cancer; it also leads to increased risks of ovarian, pancreatic, and several other cancers, which often occur at a younger than average age. Lynch syndrome occurs among men and women in all ethnic groups in the United States. A diagnosis of Lynch syndrome offers an opportunity to 1) enhance cancer prevention and screening measures for patients and families, 2) prevent cancer or detect it earlier, and 3) save lives and is cost-effectiveExternal Web Site Icon.
In 2009, the Evaluation of Genomic Applications in Practice and Prevention Working Group published an evidence-based recommendationExternal Web Site Icon that every person newly diagnosed colorectal cancer should be offered screening for Lynch syndrome to identify opportunities to reduce morbidity and mortality in their relatives.
Lynch syndrome screening is performed by analyzing tissue from the person with colorectal cancer for specific pathologic features. If the results suggest the possibility of Lynch syndrome, the affected person is offered genetic counseling and additional testing. Offering screening to all newly diagnosed colorectal cancer patients—regardless of age, ethnicity or family history—is termed “universal screening.” This approach supports an objective of Healthy People 2020, which is to:
‘Increase the number of newly diagnosed colorectal cancer patients who are screened for Lynch syndromeExternal Web Site Icon’
In September 2011, a group of 37 dedicated people from leading cancer institutions created the Lynch Syndrome Screening Network (LSSN)External Web Site Icon, with the goal of reducing the cancer burden associated with Lynch syndrome. LSSN has already received more than 80 institutional applications for membership. More than half of the applicant institutions have already implemented universal Lynch syndrome screening and the others are either interested or in the process. The LSSN will facilitate implementation of universal Lynch syndrome screening by promoting sharing of resources, protocols, and data. LSSN Founding members have already gathered existing educational resources and created a new database to monitor progress toward achieving the Healthy People 2020 objective for Lynch syndrome.
Each first-degree relative (parent, sibling, or child) of a person with Lynch syndrome has a 50% risk of carrying the gene mutation and should be offered genetic counseling and testing. Relatives of a person with Lynch syndrome who are not found to have the gene mutation for Lynch syndrome will typically have the same risk for colorectal cancer as the general population, and their children will not be at risk for Lynch syndrome. Family members who are found to have the gene mutation for Lynch syndrome can be offered earlier and more frequent screening for colorectal and other cancers. Because these people can pass the gene mutation on to their children, the children should also be offered testing after reaching adulthood.
Genetic testing in family members of persons with a Lynch syndrome gene mutation is called “cascade testing.” Cascade testing will allow the Healthy People 2020 objective to achieve population health impact by preventing additional cancers in family members.
March is National Colorectal Cancer Awareness month. This month, increasing awareness of Lynch syndrome is especially timely, as the importance of collecting and sharing information regarding family history of colorectal cancer is being promoted throughout the United States (Colon Cancer AllianceExternal Web Site Icon ; Family PLZExternal Web Site Icon). People with an immediate family member diagnosed with colorectal cancer should share this information with their health care providers, so that screening for Lynch syndrome can be considered.
Lynch Syndrome International is promoting March 22, 2012, as LYNCH SYNDROME PUBLIC AWARENESS DAY. To learn more, please visit Lynch Syndrome International Home pageExternal Web Site Icon ( or the Lynch Syndrome Hereditary Cancers Public Awareness pageExternal Web Site Icon or LSI on FacebookExternal Web Site Icon)
Back in December we wrote about Jeremy Hunt’s announcement that six centres in England would start using Bowel Scope Screening (BSS, also known as flexi-scope or flexible sigmoidoscopy) as part of their bowel screening programme in 2013.
This week, 55 year olds in the South of Tyne region (which includes Gateshead, Sunderland and South Tyneside) received the first wave of letters inviting them to be screened.
This is great news. Cancer Research UK has been involved in Bowel Scope Screening from the beginning – we co-funded a 16 year study which showed that it cuts deaths by over 40 per cent, and – unlike the current test – can actually prevent a third of bowel cancers among those screened.
As a result, it has the potential to save thousands of lives from bowel cancer each year.
As soon as the trial results were published in 2010, we said we wanted the Government to add BSS to the existing bowel screening programme, and later that year, they agreed, setting aside £60m to fund it.
Since then we’ve been calling for Bowel Scope Screening to start as soon as possible, so it’s fantastic to see it finally happen.
The test used in Bowel Scope Screening, flexible sigmoidoscopy , uses a flexible tube with a camera and a light on the end to look into your lower bowel. It can spot both early-stage cancers and pre-cancerous growths known as ‘polyps,’ which can be immediately removed to prevent them developing into cancer.
Recent studies have shown that people find it ‘acceptable’ and ‘reassuring’.
It’s not a new test – it’s been used to diagnose bowel cancer in patients with symptoms for many years. But what is new is using it in this way to screen the population before they even have symptoms. And this could have a huge impact on bowel cancer in this country.
This is the first of six ‘pilot’ centres which will iron out any potential problems in the system before rolling out BSS to the rest of the country. Over the next few months, another five centres will then start to offer Bowel Scope Screening.
By 2016, everyone in England should be invited to have a test at the age of 55.
Bowel Scope Screening adds to the existing bowel screening programme, which uses the Faecal Occult Blood Test (FOBT) – which looks for blood in your stools. People are invited from age 60 to participate (or age 50 in Scotland).
Under the new plans, if you live in England, you’ll be invited to be screened using BSS when you turn 55. If you decide not to go (and it is your decision), you can change your mind up until you turn 60. At that point you’ll be invited to take part in the existing bowel screening programme.
Whether or not you decide to have BSS, you will still be invited to take part in the existing screening programme at 60, to help spot any cancer that might develop later on. Although it hasn’t been shown to prevent cancer in the same way as BSS, FOBT is still an important way of helping to diagnose bowel cancer at an early stage, when treatment is more likely to be successful. The evidence so far suggests it’s made a big impact already and BSS takes this a step further.
This is an important first step. Now we need to make sure that everyone can benefit from Bowel Scope Screening. At the moment BSS is only being rolled out in England. We want to see Scotland, Wales and Northern Ireland develop their own plans for BSS, including making sure they have the right facilities available.
If this test is made available across the UK, thousands of deaths will be prevented, and – even better – potentially thousands of people will be spared from ever having to experience this terrible disease.
A new study1 that combines genetic information on bowel cancer with NHS patient outcome data has found a link between family history of the disease and a better chance of survival, published in the British Journal of Cancer.
Cancer Research UK scientists, based at the University of Leeds, in collaboration with the National Cancer Intelligence Network (NCIN), matched the genetic data2 of nearly 11,000 bowel cancer patients with data from the National Cancer Data Repository (NCDR) on treatment and survival.
And by tracking the survival of these bowel cancer patients they found that the 1,700 people (16 per cent) with a family history of the disease were 11 per cent less likely to die from bowel cancer within 5 years of diagnosis than patients who had no family history of the disease3.
The scientists believe the better prognosis for those with a family history may be linked to the fact that these patients were more likely to have right-sided tumours, that are biologically different to other tumour types, which may respond better to treatment.
Dr Eva Morris, a Cancer Research UK funded scientist at the University of Leeds, and lead author of the research, said: “Our study has found a relationship between family history of bowel cancer and a higher chance of survival.
“Although we haven’t been able to determine exactly why this is the case, it does demonstrate how we can use data that we already routinely collect to help us develop a better understanding of bowel cancer and its genetic causes.
“As datasets such as the NCDR expand and collect more detailed information this opens up the possibility of using this data to help develop better targeted treatments for patients, based upon their individual genetics.”
Dr Julie Sharp, senior science information manager at Cancer Research UK, said: “This is another important step forward in our understanding of bowel cancer. Now we need to find out more about what’s causing this difference. Studies like this, which link genetic data to detailed patient information, may help us develop a more personalised approach to treating cancer in the future.
“Survival from bowel cancer is best when it’s diagnosed and treated in the early stages, so anyone who notices possible symptoms of the disease – blood in stools, or changes to bowel habits lasting longer than three weeks should get this checked out. If you think you may have a family history of bowel cancer it’s worth discussing this with your GP.”
We have launched our ‘Never Too young’ campaign to raise awareness of bowel cancer in patients under the age of 50. Every year 2,100 younger people are diagnosed with bowel cancer in the UK, of which 21 are in their teens. Currently too many are being diagnosed late when treatment is harder and too many lives are needlessly being lost from this treatable disease.
March 22nd is Lynch Syndrome Hereditary Cancer Day. We urge every institution to acknowledge this day with some activity involving public education, public awareness or medical provider training. Together, we can make a difference.
What would you do to reduce the chance of dying of cancer? How far would you go if you had a 70 to 90 percent chance of contracting bowel cancer — and your uncle, mother, father, and two of your brothers had died from it?
Lynne Fisher decided she would do almost anything.
So, even though she showed no signs of cancer at all, Fisher, 51, a former mental health worker, agreed to undergo what might sound like a radical surgery: doctors removed nearly her whole colon and rerouted her small intestine to perform the functions of her large intestine.
The side effects were horrific, she said. For a year, Fisher struggled to control her bowel movements. She fought depression, and she hated her large scars and the 28 staples that had been left in her body. Her Multiple Sclerosis returned. The woman she shared a hospital room with — who’d had a similar surgery — did not survive.
“When you’re in it, it’s like a dark tunnel,” she told ABC News in a long phone conversation about her medical history.
But then, one day, she realized the surgery had helped saved her life. And since then, she’s never looked back.
“What’s a year out of your life compared to dying?” the 51-year-old said from her home in central England. “I get to watch my dogs grow up, my children grow up, my grandchild, I get to see my cherry blossoms in the tree, I get to see the sun shining in the morning, I get to go on holiday — I get to see life.”
Genes that cause breast cancer have been discussed widely for years. But less well known is Lynch syndrome, the gene mutation that Fisher and her much of her family inherited.
Roughly one in 370 people has Lynch syndrome, according to Lynch Syndrome International, an organization dedicated to helping people with Lynch syndrome and those who treat them. It’s unclear how many Americans choose to have the surgery that Fisher had: prophylactic subtotal colectomy, which doctors describe as a major surgery that, while elective, can often save lives.
“A person will select the option of sub-total colectomy because the entire colon is at very high risk for cancer,” said Dr. Henry Lynch, who discovered Lynch syndrome in the 1960s and is now the chairman of Preventive Medicine and Public Health at Creighton University and the director of Creighton’s Hereditary Cancer Center. “Lynch syndrome goes from one generation to the next. And it has an early age of onset in colon cancer.”
Fisher’s battle with bowel cancer began more than 20 years ago. She said she has suffered unbelievable tragedy and found inspiration from some likely and unlikely places: her sons, a stray dog, and Sharon Osbourne.
‘I Was Very Numb. I Couldn’t Think’
Fisher’s battle with bowel cancer began when she was in her early 30s. Long before she knew about her own susceptibility, her uncle got sick. He died in 1982.
Shortly after, her father got sick. She held his hand as he died from bowel cancer, almost exactly one year after his brother died.
Then, 10 years later, Fisher’s brother Mickey was diagnosed with bowel cancer at 28. He was dead at 30, leaving behind two children and a pregnant wife.
“After Mickey died, I had a bit of a nervous breakdown,” she admits.
Even though bowel cancer had taken three of her closest blood relatives, doctors “still didn’t make a connection.” Back then, few believed that bowel cancer was genetic.
One person who did was Dr. Lynch. Today, he is widely regarded as one of the fathers of cancer genetics. But when he discovered hereditary non-polyposis colorectal cancer — known today as Lynch syndrome — few believed him. He wanted his discovery to encourage people with family histories of cancer to get checked, but many experts argued against any link between family history and cancer.
March 22 is now recognized as Lynch Syndrome awareness day.
Decades after Lynch’s discovery, the Fishers were still not advised just how hereditary cancer could be, Lynne Fisher says. So the family had to suffer many more tragedies.
In 1997, her mother died of bowel cancer at 68. In 2006, her brother Clyve had a colonoscopy in August. He was given a clean bill of health. By the next April, he was dead.
“If they’d made this connection long ago, maybe they could have saved my brother’s life,” Fisher says.
Before he died, doctors finally realized that Clyve and much of the family had inherited Lynch syndrome. And, as he lay dying, said he Clyve was determined to change the family’s future. “He turned to me and said, ‘I’m going to die, but you need to get yourself tested,'” Lynne remembers. “If you don’t,” he continued, “you could die of bowel cancer.”
But knowing you should get tested for a gene that, given her history, would effectively sentence her to death is different than having the strength to get tested. At first, Fisher didn’t want to know. She felt it was her “fate” to die of colon cancer.
“I thought it was best if you don’t know and just get on with life,” she says.”Because life is worth living, not worth worrying all the time. There’s a world outside. You have to live.”
Her doctors insisted. And eventually, Fisher realized she must have the test — so her sons would know if they had to worry.
Two of her other siblings took the test and came back negative. Which made her positive result all the more shocking.
“I was shaken,” she says. “I was very numb. I couldn’t think.”
Her doctors encouraged her to have her colon removed, a surgery she feared and initially resisted. To this day, she says she believes she would not have gone through with it except for a vacation and a chance encounter with an abandoned dog.
“My husband at the time, who was very supportive, said, ‘Let’s go to Turkey for 2 weeks and we’ll talk about it in Turkey,” she recalls.
While there, they stumbled on an abandoned puppy that had been beaten, his tail cut off and his skin burned by lit cigarette stubs. Fisher spent much of her vacation forgetting about her own issues and nursing the dog back to life.
“We brought the dog back to this country. We brought him home,” she says. “And it dawned on me when I got back and the dog came back with us — and he’s a beautiful collie — that I had just saved his life so that I needed to stay alive, to keep on looking after him.”
Fisher found a second inspiration: she read that one of her idols had also contracted bowel cancer — and had removed a portion of her bowel to fight it.
In 2003, Sharon Osbourne — badgered by her husband Ozzy — underwent a colonoscopy that revealed a very small cancer toward the bottom of her colon. After her surgery she had chemotherapy and has fully recovered, honored for her willingness to publicly discuss her illness and raise awareness for bowel cancer.
“I die my hair like her, I love that lady,” Lynne says of Osbourne. “I thought, if she went through it — I’ll go through it.”
Despite Fisher’s success story, prophylactic subtotal colectomy is still seen by many doctors as a last resort.
ABC News contacted Fisher through beatingbowelcancer.org, a British charity dedicated to improving bowel cancer awareness and increasing early diagnoses. The charity also recommended speaking with Dr. Kevin Monahan of the Family History of Bowel Cancer Clinic at West Middlesex University Hospital.
Monahan argued that many doctors do not recommend the surgery because of the side effects that Lynne suffered and because preventative medicine can help fight Lynch syndrome. “Screening with colonoscopy is highly effective,” he told ABC News. “Probably one of the most effective screening tests in all kinds of cancer.”
He also cited a recent study in the United Kingdom that showed daily aspirin can reduce people’s chances of developing colon cancer by as much as 50 percent.
Even Lynch himself admits the surgery is not widely supported.
“There was a lot of reticence by physicians to do that procedure,” he said. “It’s still not fully accepted.”
But it is getting more common, and he knows some patients “desperately want to talk about it. The doctors need to listen to them.”
Lynne says she was never really given an option — her doctor said if she didn’t have it, they would soon be treating her for cancer.
Today, despite all the side effects, she doesn’t regret having the surgery.
“You have to go through that dark tunnel,” she says. “At least I didn’t have the cancer. And that’s what I have to keep remembering.”
She believes the good health she is enjoying because of her surgery means her brother Clyve, who urged her to have the test for Lynch Syndrome, didn’t die in vain.
“I’m giving it a good bash,” she says. “If Sharon Osbourne can fight it, I can fight it.”
The day my wife was diagnosed with malignant pleural mesothelioma is one that I will never forget. Just three months earlier in August of 2005, we had celebrated the birth of our first daughter, a little angel we named Lily. Unfortunately, just before Thanksgiving that year we received the news that my wife had a rare and extremely deadly form of cancer.
All of a sudden, I was the caregiver for a person with cancer. My role started before we even left the doctor’s office with the diagnosis. The doctor gave us three options for Heather’s treatment. We could seek treatment at the local hospital, head to a regional hospital or go to a hospital in Boston with one of the leading mesothelioma specialists in the world. My wife looked at me with a pleading look to save her in her eyes, and I instantly said we have to get to that specialist in Boston.
The next few months soon overwhelmed me. I could now only work my formerly full-time job part-time, but I was busier than I had ever been before. In addition to taking care of Heather, I had to take care of our baby girl as well.
There were times that this role as the caregiver and rock of the family completely overwhelmed me. I would suddenly find myself feeling broken down, overwhelmed and helpless. However, I always managed to pull myself together, and I never let Heather see me when I hit rock bottom. I knew I needed to be strong when I was with her so that she could lean on me for support during her difficult battle with cancer.
It was amazing to see how many of our family and friends reached out to us while Heather was getting treated for mesothelioma. People gave us time, money and kind words, and all of this help gave us the strength to keep fighting on. Anyone that faces a similar situation should take advantage of any help that people around them are willing to give, and don’t be afraid to ask for it. This job is hard enough as it is; you shouldn’t have to go through it alone.
Being a caregiver for a cancer patient is something that is incredibly challenging. There are a lot of dark moments and chaos where you don’t know if you will ever see the light at the end of the tunnel. The most important thing is to never, ever give up hope. Always keep fighting for a better tomorrow.
After radiation treatments, chemotherapy and surgery, Heather is now completely free from cancer. It has been over seven years since her terrifying diagnosis, and she remains healthy and happy to this day. Now, we hope that by sharing some of our experiences, we can help inspire other currently going through their own battle with cancer today.
Read more from Cameron Von St James’ blog here