In new recommendations published in the Journal of Clinical Oncology, ASCO stated that family history of cancer in first- and second-degree relatives is critical to assessing for familial risk in patients with cancer. ASCO’s recommendations are the first to focus on family history taking specifically in oncology to help determine patients’ personal genetic risk for cancer.
Although the current standard in medical genetics, genetic counseling and research settings is a comprehensive recording of three generations, following a review of all available evidence, ASCO concluded that reported family history is most accurate in close relatives and loses accuracy in more distant relatives.
“Genetic factors are a key component of precision medicine because they can unlock important information that can help an oncologist determine the best course of individualized treatment, “ said ASCO President Clifford A. Hudis, MD, FACP. “An adequate family history is key to identifying those patients whose cancer may be associated with inherited genetic factors.”
For each relative with cancer, ASCO recommends recording type of primary cancer(s), age at diagnosis, lineage (maternal and/or paternal), ethnicity and results of any cancer genetic testing in any relative. Family history information should be recorded at a patient’s initial visit to the oncology provider, and be reassessed if new information about family members diagnosed with cancer becomes available.
Addressing Barriers to Implementation
In a separate analysis of data from ASCO’s Quality Oncology Practice Initiative QOPI®, results showed that of breast and colorectal patients with a first degree family history of cancer, 79.8 percent were documented in their chart and for those with a second degree family history of cancer, 64.6 percent were documented. These results document a greater opportunity for oncologists to maximize the potential of family history taking, and set a baseline for further quality improvement efforts.
To address barriers to implementation, ASCO recommends increasing patient education and awareness on the importance of a family history and the significance of a cancer risk assessment for patients and their family. Cancer.Net, ASCO’s patient website, will offer an article and infographic, as well as a cancer family questionnaire patients can download.
ASCO also notes that the increasing use of electronic health records (EHRs) can help providers overcome challenges to adopting these new recommendations.
ASCO will be providing a comprehensive update of cancer genetics including family history assessment at its annual meeting. For more information about ASCO’s prevention and genetics work, please click here.
A consultant at West Middlesex University Hospital is urging people to go to their GP if they have symptoms linked to bowel cancer. Dr Kevin Monahan, Consultant Gastroenterologist, runs the Family History of Bowel Cancer Clinic at West Middlesex, and is speaking out to support bowel cancer awareness month during April. He says: “If for the last three weeks you’ve had blood in your poo or it’s been looser, go and see your GP. “We know that people are reluctant to visit their GP if they experience symptoms because they’re embarrassed and worried about wasting the doctor’s time. “But it could save your life. Over 90 per cent of bowel cancer patients diagnosed with the earliest stage of the disease survive five years from diagnosis compared with only 6.6 per cent of those diagnosed with advanced disease. “Bowel cancer is the third most common cancer in the UK for men and the second most common cancer for women. Every year more than 30,000 people will develop it. An estimated 13,000 people die annually from bowel cancer. “Many people worry about getting bowel cancer, sometimes because a relative has had it. At West Middlesex I run a Family History of Bowel Cancer Clinic specifically for those people who may be at higher risk of developing the disease. “The cause of most bowel cancers is not known, but we do know that some risk factors can increase your chances of developing cancer. This includes having one close relative aged under 50 or at least two close relatives on the same side of the family who developed bowel cancer at any age. “If these apply to your family and you’re worried about your risk of developing bowel cancer, you may want to talk to your GP. If your GP thinks there’s a chance you may have an increased risk of developing bowel cancer because of your family history, they can refer you to the Family History of Bowel Cancer Clinic here or elsewhere for advice and treatment.”
Family history of bowel cancer increases odds of survival
Wednesday 20 March 2013
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.
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.”
A peek into the past can reveal a lot about your future.
Family health history is the story of diseases that run in your family. It is one part of the entire history of your family. Along with culture, values, environment, and behaviors, family health history influences the way you live your life. Learning about your family health history can help you make healthy choices: it is a cheap, easy way to improve your own health and the health of your family. Share the information you gather with your healthcare provider to further reduce your risk of disease and create a partnership around your health.
Check out the Does It Run In the Family? toolkit in English and Spanish! “A Guide to Family Health History” explains the importance of family health history, how to collect it, and how to organize it. “A Guide to Genetics and Health” explains genetics 101 and gives information on conditions that can run in the family, such as heart disease, diabetes, and cancer.
Customize these booklets for your family, organization, or community.
Patients with an inherited condition called Lynch syndrome dramatically reduced their risk of cancer by taking aspirin. Photograph: Martin Godwin
Some people with a family history of cancer could halve their risk of developing the disease by taking daily doses of aspirin, according to the results of a 10-year trial of the treatment.
The study shows that regularly taking the medicine cuts the risk of bowel cancer by more than 60% in those with a particular genetic predisposition to get the disease – as well as reducing the risk of other hereditary cancers.
Scientists who led the study said people with several family members with cancers other than breast, blood and prostate might be advised to start taking aspirin daily from the age of 45.
They said those without a family history of the disease might also consider doing so, but that they should make a personal assessment of the risks and benefits and get medical advice. Anyone thinking of taking the drug regularly should consult their doctor first.
Doctors already prescribe low, daily doses of aspirin to people at increased risk of heart attacks and strokes, and evidence has been growing of anti-cancer properties for 20 years. However, this is the first long-term, randomised controlled trial to show such an effect.
The trial involved people with Lynch syndrome, a genetic abnormality that predisposes carriers to develop bowel cancer and other solid organ cancers including endometrial, ovarian, stomach, kidney, oesophageal, brain and skin tumours.
The condition affects at least one in 1,000 people. Carriers are around 10 times as likely to develop cancer and often do so at a young age.
Professor John Burn of Newcastle University, who led the study, estimated that if all 30,000 or so people with Lynch syndrome in the UK were to start taking two aspirin tablets a day then some 10,000 cancers would be prevented over the next 30 years, saving about a thousand lives. The downside of the treatment is that around an extra thousand people would develop stomach ulcers as a side-effect.
“People with a genetic susceptibility are a model system,” said Burn, whose work is published online in the Lancet on Friday. “They are more sensitive to the environmental triggers to cancer.
“If we can do something to change cancer progression in people at high genetic risk, then that’s telling us what we might all benefit. But we are not making a recommendation for the general population. Everyone can take this evidence and make their own choice.
“In between you have the people who have a family history [of cancer]. Those individuals may well decide to put themselves on aspirin and that would be a reasonable conclusion from the data currently available.”
Between 1999 and 2005, about half of a group of 861 Lynch syndrome carriers were given two aspirins (600mg) a day, while the rest took placebos.
By 2010 those who had taken aspirin for at least two years were 63% less likely to have developed bowel cancer.
Looking at all forms of the disease, almost 30% of those in the placebo group developed a Lynch syndrome-related cancer, compared with 15% for those given aspirin.
The most common side effects associated with taking aspirin are gastrointestinal ulcers and stomach bleeding. There is also an very small increased risk of haemorrhagic stroke, in which a blood vessel in the brain bursts.
There was no difference in the proportions of the study groups suffering such side-effects.
Burn added that he takes low-dose aspirin tablets as a preventative measure. “That was a balanced judgment based on weighing risks and benefits. I know I might get an ulcer or a cerebral bleed but I’d rather not have a heart attack, stroke or cancer. That’s my choice.”
Aspirin is a synthetic version of the active component of willow bark, salicylic acid, which has been used as a medicine for its anti-inflammatory properties for hundreds of years. Salicylates also trigger programmed cell death to help diseased plants contain the spread of infection.
“It’s not a huge stretch to think that if salicylate induces programmed cell death in plants to kill infected cells, maybe it’s doing similar things in the animal kingdom to enhance the death of aberrant cells causing cancer,” said Prof Burn.
“This adds to the growing body of evidence showing the importance of aspirin, and aspirin-like drugs, in the fight against cancer and emphasises how critical it is to carry out long-term international research,” said Prof Chris Paraskeva, a bowel cancer expert at the University of Bristol.
Authors: Chuong B. Do, David A. Hinds, Uta Francke, Nicholas Eriksson
The clinical utility of family history and genetic tests is generally well understood for simple Mendelian disorders and rare subforms of complex diseases that are directly attributable to highly penetrant genetic variants. However, little is presently known regarding the performance of these methods in situations where disease susceptibility depends on the cumulative contribution of multiple genetic factors of moderate or low penetrance. Using quantitative genetic theory, we develop a model for studying the predictive ability of family history and single nucleotide polymorphism (SNP)–based methods for assessing risk of polygenic disorders. We show that family history is most useful for highly common, heritable conditions (e.g., coronary artery disease), where it explains roughly 20%–30% of disease heritability, on par with the most successful SNP models based on associations discovered to date. In contrast, we find that for diseases of moderate or low frequency (e.g., Crohn disease) family history accounts for less than 4% of disease heritability, substantially lagging behind SNPs in almost all cases. These results indicate that, for a broad range of diseases, already identified SNP associations may be better predictors of risk than their family history–based counterparts, despite the large fraction of missing heritability that remains to be explained. Our model illustrates the difficulty of using either family history or SNPs for standalone disease prediction. On the other hand, we show that, unlike family history, SNP–based tests can reveal extreme likelihood ratios for a relatively large percentage of individuals, thus providing potentially valuable adjunctive evidence in a differential diagnosis.
In clinical practice, obtaining a detailed family history is often considered the standard-of-care for characterizing the inherited component of an individual’s disease risk. Recently, genetic risk assessments based on the cumulative effect of known single nucleotide polymorphism (SNP) disease associations have been proposed as another potentially useful source of information. To date, however, little is known regarding the predictive power of each approach. In this study, we develop models based on quantitative genetic theory to analyze and compare family history and SNP–based models. Our models explain the impact of disease frequency and heritability on performance for each method, and reveal a wide range of scenarios (16 out of the 23 diseases considered) where SNP associations may already be better predictors of risk than family history. Our results confirm the difficulty of obtaining accurate prediction when SNP or family history–based methods are used alone, and they show the benefits of combining information from the two approaches. They also suggest that, in some situations, SNP associations may be potentially useful as supporting evidence alongside other types of clinical information. To our knowledge, this study is the first broad comparison of family history– and SNP–based methods across a wide range of health conditions.
When A Question of Sport captain Matt Dawson discovered he was at increased risk of developing bowel cancer he decided not to take any chances.
The 39-year-old former England rugby player, who lives with wife Carolin and six-month-old son Alex, explains here why he goes for regular health screenings.
Because of where it is in the body, bowel cancer is one of those things people can get embarrassed talking to their doctor about.
Let’s face it, we all feel a bit apprehensive when we know we’ve got to drop our trousers for someone.
But because of what’s happened in my family and the things we’ve all been through, I realised it was something I couldn’t ignore.
Sadly my grandfather on my mum’s side died of bowel cancer when I was a teenager. He was only 60, but by the time it was discovered it was advanced.
So it was even more terrifying when my mum, Lois, 64, was diagnosed in 2007. She was still fairly young – like many people who suffer from bowel cancer she was in her 50s – and it was a very frightening experience.
It was actually quite difficult for her to get a diagnosis, even with the family history. She’d gone to the doctor because she had symptoms, but still had to push for a diagnosis so she could finally begin her treatment.
It must have been very hard for her to do that, especially after seeing her own dad being so ill, but she knew that something wasn’t right.
And because she also knew that bowel cancer is one of the more treatable cancers, she kept going back to her doctor. Thankfully she had surgery and treatment and has been well for five years now.
But because of that strong history – having two ‘first degree’ relatives diagnosed – it does mean I could be at more risk than others. I’m of the opinion that it’s always better to know if there’s something wrong, so about three years ago I decided to undergo screening.
It was quite full-on, a complete MOT for the body really, but I needed that peace of mind.
When you know you could be at risk it’s hard not to be anxious or even paranoid about it, but bowel cancer is treatable a lot of the time if it’s caught early enough.
For me it’s not about, ‘am I going to find out I’m terminally ill?’ it’s more, ‘can I nip something potentially very bad in the bud?’
So I had the whole screening, including a full MRI scan and fitness checks.
I was a bit nervous and it was a lot more comprehensive than I was expecting – they had me on the treadmill and looked at my eyes, ears, everything.
Yes, it was uncomfortable at times, but it was well worth it to have the reassurance that I was cancer-free – it means you can forget about it for a while.
I’m due for another screening and it’s something I’ll continue to do for the rest of my life.
It isn’t just about me. Being a dad has made me even more aware of the need to look after myself for my family’s sake.
Being in shape and eating healthily all help lower the risk of bowel cancer, too. So although I don’t train any more, I do some exercise most days, preferably outside.
I’ll jump on my bike, play golf or do some work at home or if the weather’s really bad I might head to the gym.
It’s about relaxing and feeling good. Like most rugby players I’ve had my fair share of injuries and undergone surgery on my knees, shoulder and neck, so I’m careful about how I push my body.
I was filming with my Question of Sport co-star Phil Tufnell last week, hadn’t warmed up properly and felt my hamstring twinge – that’s when you realise you’re getting older and need to be careful.
Eating well is important too, so I try to get my five a day. Since I won Celebrity MasterChef in 2006, everyone knows that I like my food. It’s important to me to prepare the right kinds of meals – full of flavour rather than salt, sugar or fat.
I’m not over the top about it and I enjoy everything in moderation, but if I make a bacon sandwich I’ll cut the fat off.
I don’t even think about it any more, it’s just become the way I do things.
Cooking is a great way to relax too. I’m not often ill but if I do feel a tickle in the back of my throat I’ll reach for the supplements – my partner introduced me to them – and it seems to do the trick.
Put it this way, I’m going to turn 40 at the end of this month and I’m not worried about it.
My 30s have been amazing for so many reasons. If my 40s are half as good – and healthy – I’ll be very happy.
Research published in the journal Gastroenterology has found that fewer than 10% of bowel cancer patients who are at high risk of having Lynch Syndrome are appropriately screened for the condition in the United Kingdom.
Lynch Syndrome is an inherited genetic disorder which affects the genes responsible for detecting and repairing damage in the DNA, around half of whom develop cancer, mainly in the bowel and womb. Lynch Syndrome causes around 3% of bowel cancer cases in the UK.
When several members of the same family are diagnosed with bowel cancer it is recommended that they are screened for Lynch Syndrome.
Researchers investigated the clinical pathways of 554 bowel cancer patients in two UK hospitals. They found that fewer than 10% of bowel cancer patients who were at high risk of Lynch Syndrome were appropriately screened for the condition.
How often do you think a family conversation about cancer occurs? The truth is, not nearly often enough.
Colorectal cancer (often called simply “colon cancer”) is cancer that develops in the colon or the rectum, and it’s the third most common cancer in the U.S. While most people diagnosed with colon cancer do not have a family history the disease, people who have this cancer in their family have a significantly higher chance of being diagnosed. The good news is that colon cancer is one of the most preventable cancers, and this prevention can work even for people who are at high risk of the disease.
Colon cancer is preventable because it usually starts as a non-cancerous growth called a polyp. Not all polyps will progress to cancer, but for those that do the transformation usually takes a number of years. Cancer can be prevented by finding and removing these polyps with colon cancer screening tests during this transition period.
People who have a history of colon cancer or polyps in a close family member (parent, sibling, or child) may have twice the risk of developing the disease compared to those with no family history. This is especially true if cancer appears in the relative before age 60. If there are multiple family members with colon cancer, the risk may be even higher.
Polyp detection and removal is best accomplished by regular screening – recommended to start at age 50 for people at average risk for developing colon cancer. However, screening recommendations may be quite different for those with an affected relative. That’s why it’s so important to know your family history. Simply knowing that a relative had “cancer” is not sufficient; you need to know details:
Where did the cancer start? Cancer of the colon is very different than cancer that starts in the stomach.
How old was the relative was when cancer was diagnosed? Colon cancer diagnosed in an 80- year-old grandmother may not imply that the family is at higher risk, particularly if this is the only case in the family.
Family history is an important predictor of many cancers (colon, breast, prostate), as well as other diseases (diabetes, hypertension, heart disease). Many people don’t appreciate the increased risk associated with a family history of these diseases, but this knowledge could be life-saving for you or for someone you love. The American Cancer Society and the National Colorectal Cancer Roundtable have developed FamilyPLZ.org to spark these discussions. FamilyPLZ provides tips, tools, and resources to educate the public on the importance of family health history, help people gather this critical information, and share it within their family and with their doctors.
So while these are not easy conversations, they are definitely worth having.
Dr. Brooks is director of prostate and colorectal cancers for the American Cancer Society.
The Family History of Bowel Cancer Registry was founded in 2010. It has been a useful resource for hereditary and non-hereditary colorectal cancer research conducted at West Middlesex University Hospital. Our clinicians and researchers have utilised the information our registry provides for research on the causes of colorectal cancer. It helps to link our patients with their screening and surveillance programmes, and also in to local and national research projects such as the Cancer Research UK study CORGI (COloRectal Gene Identification Study). The registry also provides services to families, community health professionals, and the general public, including educational materials and programs on hereditary colorectal cancer syndromes, cancer genetics, and current research.
Family History of Bowel Cancer Registry;
Evaluation of family histories based on questionnaires and medical records