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New Bowel Cancer UK report on Lynch Syndrome


Families devastated by cancer as health bodies pass the buck

Our new findings reveal a shocking picture of delayed testing for diagnosis, poor management and unacceptable long waiting times for genetic testing for people diagnosed with Lynch syndrome – a genetic condition similar to the BRCA gene for people with a high risk of breast cancer.

  • We carried out a nationwide survey of people with Lynch syndrome.
  • An estimated 175,000 people have Lynch syndrome in the UK. Most people (95%) with Lynch syndrome do not know they have it because of a lack of systematic testing. If you have Lynch syndrome there is a 50% chance that your children, brothers and sisters also have the condition.
  • People with Lynch syndrome need to be identified, so they can be regularly monitored to reduce their risk of bowel cancer. In some cases the risk of developing bowel cancer from this inherited condition is as much as 80% and it also increases the risk of other cancers including ovarian cancer, stomach cancer and womb cancer.
    An estimated 1,100 cases of bowel cancer can be attributed to Lynch syndrome each year – many of them under the age of 50.
  • Currently people with Lynch syndrome are managed locally with mixed results across the country.  This means those at high risk who require coordinated, timely and high quality care in order to reduce and manage their risk of bowel cancer fail to receive it. There’s a lack of leadership locally and nationally, with no body or organisation taking responsibility to address these issues to improve the identification and management of this serious genetic condition. In the meantime whole families are being devastated by cancer.
  • The buck stops with the UK Health Ministers. We’ve started a petition calling on them to step in and take responsibility for identifying and managing people with Lynch syndrome by implementing the charity’s top three recommendations:
    • Develop a national registry of people identified as having Lynch syndrome. A registry could increase our understanding of the condition, including knowing how many people are affected & whether there are any regional differences in treatment, care and outcomes. Our survey found that 87% of respondents identified with Lynch syndrome would consent to be part of a genetics registry.
    • Establish a national surveillance programme to improve the management of people with the genetic condition. 49% of respondents to our survey experienced delays to their planned colonoscopy appointment date, with 78% waiting more than six weeks.
    • Comprehensive UK guidelines should be developed that set out best practice for the clinical management of people with Lynch syndrome.

51-year-old Caroline found out she had Lynch syndrome after she was diagnosed with bowel cancer.
“I was referred to a geneticist after chemotherapy, where I was diagnosed with Lynch syndrome. I had never heard of this, but it highlighted my family history. My whole family has been devastated by cancer. My mum died of ovarian cancer, her mum died of bowel cancer, my mum’s brother died from cancer in the liver, mum’s sister died from ovarian cancer and my mum’s other brother died from lung cancer. I have two children, they’re too young to be tested at the moment but that day will come.

“I waited seven months for my genetic counsellor; I don’t know why it took so long. At the appointment we discussed my family history and she said I most likely had Lynch syndrome. A blood sample was taken to confirm the syndrome but I had to chase and chase for over a year to get the results. I’m now waiting for a letter to invite me on to the aspirin trial and I think I will be chasing that up too.  Having bowel cancer is stressful enough and it’s not helpful having to chase and inform healthcare professionals about Lynch syndrome.

“More information needs to be provided to healthcare professionals about Lynch syndrome so it’s not the patient informing them.” Read more about Caroline’s story  

Deborah Alsina MBE, Chief Executive at Bowel Cancer UK, says:
“Until there is clear local and national leadership and a firm commitment to improve the services for people at high risk of developing bowel cancer, the estimated 175,000 people who carry this inherited faulty gene will continue to fall through the gaps of health bodies because they are reluctant to take responsibility.

For example in Wales and England the Breast Cancer Screening Programme has set a precedent for a national screening programme managing the surveillance of those with a known genetic mutation such as BRCA1 or 2 that increases the risk of cancer. A similar programme must now be introduced for those with Lynch syndrome. Until then generations of families will be devastated and lives needlessly lost.”

Dr Kevin Monahan, Consultant Gastroenterologist at West Middlesex University Hospital and a member of our medical advisory board, says:
“These latest findings give us an extremely valuable but also worrying insight into the challenges people with Lynch syndrome face.  With such a high risk of developing cancer, it’s vital this group is properly identified and managed by the health service in order to save as many lives as possible. We know in many areas of treatment and care too many people are being failed and this has to change.”

To address these issues, we have three top recommendations for a health body to implement:

 1. Develop a national registry of people identified as having Lynch syndrome

The UK’s understanding of the number of people with Lynch syndrome is limited – only 6,000 gene carriers are currently known, as testing is not carried out systematically across the country. By collecting anonymised data on gene carriers we can increase our knowledge and understanding of Lynch syndrome, including knowing how many people are affected and whether there are any regional differences in treatment, care and outcomes.

Our survey found that 87% of respondents identified with Lynch syndrome would consent to be part of a genetics registry if adopted in the UK to further research, raise awareness, coordinate consistent care services and to help others in the same situation.

2. Establish a national surveillance programme to improve the management of people with the genetic condition

By knowing if people have Lynch syndrome, the individual and their family can be offered a surveillance programme to receive regular colonoscopy, which can reduce their chance of dying from bowel cancer by 72 per cent. It will also reduce their risk of a recurrence of cancer, and inform treatment options.

Guidelines from the British Society of Gastroenterology (BSG) recommend that people who have Lynch syndrome are placed in a surveillance programme to receive regular colonoscopy every 18 months to two years, depending on their risk. However, 49% told us in our survey they had experienced delays to their planned appointment date and 78% of these reported waiting more than six weeks beyond their planned procedure date.

The inequalities and postcode lottery of care caused by the current localised approach to surveillance of these high risk patients could be addressed by implementing a national surveillance programme, adopting a similar approach to the national bowel cancer screening programme. The national bowel cancer screening programme, aimed at the general popular aged over 60, provides an efficient high quality service with strict waiting time targets meaning patients are seen on time.

3. Develop comprehensive UK guidelines that set out best practice for the clinical management of Lynch syndrome

An inconsistent approach to managing people at higher risk of bowel cancer will undermine efforts to save lives from this treatable disease.

– See more at: https://www.bowelcanceruk.org.uk/media-centre/news-and-blog/families-devastated-by-cancer-as-health-bodies-pass-the-buck/#sthash.7VT0XGwc.dpuf

ASCO Issues New Recommendations for Family History Taking in Oncology Setting


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.

 

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23andme: Genetic Testing Saviour or Scam?


By Anthony Zurcher Editor, Echo Chambers

It seems like a life-changing innovation. Mail a swab with a bit of saliva off to a lab, and find out if you’re at risk for cancer, or Alzheimer’s, or some other genetically linked disease. What would you do with that information? Wouldn’t you want to know?

According to the Food and Drug Administration, however, it’s an idea that’s too good to be true.

The FDA came down hard on the company 23andme, which had offered just such a mail-order testing service. The company couldn’t ensure the reliability of its testing, the government contended. And without reliable test results, patients could seek unnecessary, possibly harmful treatments for non-existent conditions.

Two former Republican administration lawyers, David Rivkin and Andrew Grossman, don’t see it that way, however. For them, it’s about freedom of information: the government is trying to prevent patients from “knowing about their own health”.

Yes, they write in Tuesday’s USA Today, the field of genetic research is still developing, and the tests aren’t 100% reliable. “But that fact does not mean these services aren’t useful to consumers, particularly when combined with traditional diagnostics.”

“Rather than regulate by assuming that consumers are incapable of understanding their personal genetics,” they conclude, “the FDA should be thinking about the enormous opportunities to improve health offered by widespread, affordable genetic testing.”

“We need something like 23andme to help develop systems for letting people know how to deal with this genetic information, and for creating a world where people can actually start to deal with lots of health data”

Matthew Herper Forbes

 

MSNBC‘s Eric Rosenbaum agrees. “Look, health is no laughing matter, and the FDA is right to have concerns — especially given the predatory history of the medical and drug industry,” he writes. “Yet there’s a fine line between a regulator’s looking out for your best interest and one being a little overly paternalistic, or just behind the times.”

Forbes’ Matthew Herper would like to criticise the FDA’s decision, too, but he can’t. 23andme brought this on itself, he writes, by ignoring the government for six months.

“Either 23andme is deliberately trying to force a battle with the FDA, which I think would potentially win points for the movement the company represents but kill the company itself, or it is simply guilty of the single dumbest regulatory strategy I have seen in 13 years of covering the Food and Drug Administration,” he writes.

The government tried to work with the startup, he contends, but 23andMe made that impossible: “This is not the story of a big regulator choosing to squash a small company, but of a company that decided that it didn’t have to follow the rules.”

He concludes:

We need something like 23andme to help develop systems for letting people know how to deal with this genetic information, and for creating a world where people can actually start to deal with lots of health data. But outside of a crowd of libertarians and genoscenti, the company does not have the political support it needs for a fight against the FDA. And none of its high-minded ideals release it from the requirement the FDA wants to enforce: that a medical device has to work.

Mass-produced genetic testing is coming, and it’s going to get more reliable. If 23andme doesn’t deliver the breakthrough product, someone else will.

There are, however, two divergent views on what should happen next. Many medical professionals complain that the Internet has filled their examination rooms with self-diagnosing, second-guessing patients. If people can readily get their hands on details of their genetic makeup, that number could skyrocket.

Should the government have a firm hand in regulating the tests, possibly making them more expensive and less available? Or will people have cheap, easy, but largely unguided access to genetic data, and then have the freedom to act on that information as they so choose – even if their actions may not, in the end, be in their best interests?

What you don’t know won’t hurt you, as the saying goes. But what about what you do know?

A national survey of hereditary colorectal cancer services in the United Kingdom


Autosomal dominant pedigree chart. In Autosoma...

A new study has just been published in the journal Frontline Gastroenterology.  This shows a highly inconsistent approach to the management of patients at elevated risk of hereditary colorectal cancer (CRC) in the United Kingdom (UK). 

The British Society of Gastroenterology (BSG) Cancer Group designed a national survey to determine how we might understand and improve the service for these patients.

What is already known on this topic? Genetic factors contribute about 35% of all colorectal cancer (CRC) risk.  There is good evidence that the correct management of patients with an elevated hereditary risk is a highly effective method of preventing CRC.  This can be achieved by screening according to guidelines and the development of a high quality service with clear patient pathways.  However in some studies there is evidence of an inconsistent approach to the management of those patients, with low risk patients being screened too often, and high risk patients not frequently enough.  There is also a low referral rate to genetic services for high risk patients.

What this study adds? Responses to this national survey suggest a poor understanding of the current guidelines amongst clinicians and variable clinical pathways for patients.  There is also a perception that another unspecified clinician is undertaking this work.  This may explain the wide variation in care and low adherence to guidelines in the United Kingdom (UK).

How might it impact on clinical practice in the foreseeable future? We recommend the development of clear structures and the provision of a high quality service to these patients through national audit, development of quality standards and education of physicians and surgeons in the UK.  Each hospital should develop a lead clinician for the delivery of these services.  Only in this way will this ad hoc approach to the management of hereditary CRC be improved.

Study Reference: Kevin Monahan & Susan Clark.  Frontline Gastroenterology. 2013 Online First

Abstract 

Objectives: The British Society of Gastroenterology (BSG) Cancer Group designed a survey to determine how we might understand and improve the service for patients at elevated risk of hereditary colorectal cancer (CRC).

Design and Setting: United Kingdom (UK) gastroenterologists, colorectal surgeons, and oncologists were invited by email to complete a 10 point questionnaire. This was cascaded to 1,793 members of the Royal College of Radiologists (RCR), Association of Cancer Physicians (ACP), the Association of Coloproctology of Great Britain and Ireland (ACPGBI), as well as BSG members.
Results:  Three hundred and eighty-two members responded to the survey, an overall response rate of 21.3%. Although 69% of respondents felt there was an adequate service for these higher risk patients, 64% believed that another clinician was undertaking this work. There was no apparent formal patient pathway in 52% of centres, and only 33% of centres maintain a registry of these patients. Tumour block testing for Lynch Syndrome is not usual practice. Many appeared to be unaware of the BSG/ACPGBI UK guidelines for the management of these patients.
Conclusions: There is wide variability in local management and in subsequent clinical pathways for hereditary CRC patients. There is a perception that they are being managed by ‘another’, unspecified clinician. National guidelines are not adhered to. We therefore recommend improved education, well defined pathways and cyclical audit in order to improve care of patients with hereditary CRC risk.

Incorporating genetic and environmental risk factors in to risk prediction for colorectal cancer


Cancer Epidemiology HomeFrom: Incorporating non-genetic risk factors and behavioural modifications into risk prediction models for colorectal cancer

Yarnall, Crouch & Lewis (Division of Genetics and Molecular Medicine, King’s College London, United Kingdom.). Cancer Epidemiology 2013 Jan 29

Abstract

Background: Epidemiological studies have identified potentially modifiable risks for colorectal cancer, including alcohol intake, diet and a sedentary lifestyle. Modelling these environmental factors alongside genetic risk is critical in obtaining accurate estimates of disease risk and improving our understanding of behavioural modifications. Methods: 14 independent single nucleotide polymorphisms identified though GWAS studies and reported on by the international consortium COGENT were used to model genetic disease risk at a population level. Six well validated environmental risks were selected for modelling together with the genetic risk factors (alcohol intake; smoking; exercise levels; BMI; fibre intake and consumption of red and processed meat). Through a simulation study using risk modelling software, we assessed the potential impact of behavioural modifications on disease risk. Results: Modelling the genetic data alone leads to 24% of the population being classified as reduced risk; 60% average risk; 10% elevated risk and 6% high risk for colorectal cancer. Adding alcohol consumption to the model reduced the elevated and high risk categories to 9% and 5% respectively. The simulation study suggests that a substantial proportion of individuals could reduce their disease risk profile by altering their behaviour, including reclassification of over 62% of heavy drinkers. Conclusion: Modelling lifestyle factors alongside genetic risk can provide useful strategies to select individuals for screening for colorectal cancer risk. Impact: Quantifying the impact of moderating behaviour, particularly related to alcohol intake and obesity levels, is beneficial for informing health campaigns and tailoring prevention strategies.

Risk factors

Low risk (Green), average risk (blue), moderate risk (yellow) and high risk (red)using combined genetic and environmental risk factors

Discussion

Over the last 30 years the lifetime risk of colorectal cancer (CRC) for men has almost doubled, from 3.5% to 6.9% in the UK in 2008. For women the increase is more than a quarter, rising from 3.9% to 5.4%.  Since both genetic and environmental factors contribute to the susceptibility to colorectal cancer, this trend may be due to a change in the dietary and lifestyle factors of the general population leading to higher levels of obesity and more sedentary pastimes.

The major risk factor for colorectal cancer is age and over 85% of colorectal cancer occurs in people over the age of 60.  Other risk factors include the presence of polyps and people having an Ashkenazi Jewish genetic heritage. The use of non-steroidal anti-inflammatory drugs (NSAIDs), hormone replacement therapy and aspirin use have also been associated with disease risk. However, it is estimated that between 52 and 57% of colorectal cancers are associated with lifestyle and environmental factors.  Many risk factors for colorectal cancer may be modified by intervention, ranging from known risks, such as increased risk from a sedentary lifestyle and dietary changes. The evidence for dietary factors indicates possible increased risk from diets low in fibre, garlic, calcium, fruit, vegetables and fish and high in red and processed meat. In addition to alcohol, BMI, smoking and exercise, we chose to model the most consistent and well validated dietary findings, which suggest that low levels of fibre and high levels of red and processed meat are both significant risk factors.

The international consortium COGENT (COlorectal cancer GENeTics) have identified many of the known genetic variants that predispose to CRC with the 14 single nucleotide polymorphisms (SNPs) found to be convincingly associated with CRC risk from GWA studies summarized in Houlston et al.’s recent update.  Of these 14 SNPs, the mean odds ratio per allele is 1.14, with the highest odds ratio reported for SNP rs16892766 near the EIF3H gene (OR 1.28).

The identification of SNPs that contribute to susceptibility for CRC has raised the prospect of genetic screening. Companies such as DeCODEme and 24andme include panels of SNPs for CRC in their genetic testing panels, yet research suggests that the genetic risk prediction alone is of questionable utility.  In this research study, we combined the known genetic risk with data on the environmental risks for CRC, enabling more complete risk prediction. We applied a statistical risk model and to determine the impact of modelling environmental factors alongside the 14 genetic susceptibility loci identified by the COGENT consortium.

Early screening for colorectal cancer can be extremely helpful in identifying individuals with polyps and nonpolypoid lesions and preventing the development of cancer. Regular faecal occult blood tests (FOBT) in the over 50 s for example have been found to reduce the number of deaths due to CRC by 15–33%.  In the UK, screening is offered to all men and women aged between 60 and 69 at a cost of £77.3 million and this will be extended to 74 year olds. However, it has been suggested that if individuals are provided with a personalized disease risk assessment from their combined genetic and environmental profile, they are likely to be more motivated to alter their lifestyle as a preventative measure, which would increase the effectiveness of health campaigns. In this study we develop predictions of CRC risk in different sub populations and assess the impact of modifying lifestyle factors on risk levels. By providing predictions of disease risk both before and after a lifestyle change for a given genetic profile, the study illustrates the potential benefits for both selection of candidates for screening programmes and the tailored promotion of healthier lifestyle choices, in high risk groups.

There are several modifiable risk factors for colorectal cancer and building predictive models encompassing both genetic and environmental factors enables us to move in the direction of a complete assessment of disease risk. This paper describes a predictive model which takes account of the known genetic contribution as well as the modifiable risks. There is considerable evidence to suggest that detecting polyps in the early stages can reduce mortality rates for colorectal cancer and whilst the interactions between the genetic and environmental elements are undeniably complex, separating out the inherited risk from the lifestyle factors using this model helps to illustrate the potential gains from modifying lifestyle behaviour and could usefully inform healthy lifestyle campaigns.

Our findings indicate that that cessation of alcohol consumption and reducing obesity levels lead to the most significant changes to the proportion of the population reducing their disease risk category. Whilst this could have been predicted to some extent by the higher odds ratios for these factors, it is the combination of relative risk, together with the prevalence of the factor within the population that determines the overall impact. In addition, being able to create personalized risk predictions in this way, has the potential to motivate greater behavioural change, showing for example, that it is possible to significantly reduce disease risk by moving from a high risk category to an average risk category though increasing fibre levels; cessation of alcohol consumption or weight management, given a particular genetic profile. Further research is required to increase understanding of how individuals respond to risk assessment based on genetic information.  This may increases their motivation since the results are personal, or decrease their motivation because they consider that their genetic risk cannot be modified.

Our focus has been on risk categorization, and not on the absolute level of risk estimated from the combination of genetic and environmental risk factors, which is modest for most categories. There are two advantages to this strategy. Firstly it moves away from the strategy used, for example, by direct-to-consumer genetic testing companies such as 23andme and deCODEme (who provide a single figure of risk with no confidence intervals) towards the strategy deployed in genetic counselling of using a qualitative risk level, which can be more easily interpreted for the purpose of risk prediction. Secondly, it puts a stronger statistical framework on the risk model: an assignment to elevated risk implies that the risk is statistically distinct from the risk of the average, baseline, individual, given the uncertainty of the parameters used in the model.

There are several limitations of the model. Firstly, the model is built from estimates in the literature extracted from different studies. This enables researchers to select the best study to capture information on each risk factor, but assumes that information is directly comparable between studies. This limits the precision with which risk estimates can be calculated. A further limitation is that the model assumes all risk factors entered are independent. For known gene and environment interactions, this can be overcome by either modelling the interaction explicitly as an environmental risk factor, or by omitting known genetic loci to prevent over-representation of a risk factor (such as SNPs on the FTO gene which are associated with BMI). Within the genetic component, linkage disequilibrium between SNPs can be tested to confirm no correlation at a population level; few interactions of risk between genetic loci have been identified, so the assumption of independence should not be a major problem. For the environmental component, assumptions of independence are more difficult to assess. Lack of independence may lead to inaccuracies in the population frequencies estimated, but the contribution of environmental factors to the model is based on relative risks that are estimated in the presence of relevant covariates, so levels of risk should not be inflated. Increasing our understanding of the association between lifestyle factors, as well as between genes and the environment, will be important in obtaining more accurate assessments of risk. In addition, the accuracy could be further improved by more specific modelling of the population being targeted. Applying data with relative risks by sex, by population group, or for individuals with a first degree relative with CRC for example, would provide more accurate estimations of disease risk specific to those populations.

Colorectal cancer screening programmes are widespread, but are age-targeted and look for signs of cancer in early development. In contrast, the methods described here can be used to target lifestyle factors, and are relevant for younger age-groups. The approach could encourage behavioural changes and help to reduce CRC rates. Although the model indicates that certain individuals can reduce their CRC risk by changing their behaviour, the time taken for changes in environmental risk factors to have an effect on risk is unknown, and will differ by factor. Additional research is needed to further elucidate the genetic and environmental contributions to disease risk and to measure the longer term impact of behavioural change on disease outcomes.

Family Health History | Genetic Alliance


Family Health History

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.

A Guide to Family Health History, English version, cover A Guide to Family Health History English

A Guide for Understanding Genetics and Health, English version, cover A Guide for Understanding Genetics and Health English

A Guide to Family Health History, Spanish version, cover A Guide to Family Health History Spanish

A Guide for Understanding Genetics and Health, Spanish version, cover A Guide for Understanding Genetics and Health Spanish

“A Guide to Family Health History” is also available in Chinese.

View several different versions on the Genetic Alliance YouTube Channel.

Tips For Collecting Your Family Health History

Learn all you can about your family’s health!

How do I collect family health history?

Talk to your family!

Holidays and other family events (birthdays, weddings, religious gatherings) provide a great opportunity to ask family members about their lives.

Plan individual conversations to get more information.

Use what you have—existing charts or trees, photo albums, baby books, birthday date books, etc.

Send a survey. This can be part of a holiday newsletter or school project.

What information should I collect?

Collect this information for you, your parents, siblings, and children, and then move on to the extended family:

  • name and relationship to you (myself, parent, child, etc.)
  • ethnicity, race, and/or origins of family
  • place and date of birth (or your best guess—for example, “1940s”)
  • if deceased, age and cause of death
  • health history—include conditions such as heart disease, diabetes, and cancer—and when the disease started
  • lifestyle (occupation, exercise, diet, habits such as smoking and regular doctor check-ups)

Collect stories about your heritage and culture. This is an excellent opportunity to preserve your family’s memories.

“Conversations about family health history should be ongoing, not a one-time topic to be discussed and forgotten. What you learn can shape your future and even save your life.”

Sharon Terry, President & CEO, Genetic Alliance

What should I do with the information I collect?

Bring it to your healthcare provider. S/he might refer you to a genetics specialist or recommend early screening.

Use it to make healthy lifestyle choices. You can change your diet and exercise habits to reduce your risk for many conditions.

Share it with your family. Shared knowledge can lead to support.

Keep adding to your family health history. It is a lifelong process!

For more family health history resources, click here.

via Family Health History | Genetic Alliance.

 

Database of all Genetic Association Studies in Colorectal Cancer


JNCI J Natl Cancer InstColorectal Cancer Gene Database Helpful in Furthering Research – click here for original article

The CRCgene database, which gathers all genetic association studies on colorectal cancer, allows for researchers to accurately interpret the risk factors of the disease and provides insight into the direction of further colorectal cancer research, according to a study published September 27 in the Journal of the National Cancer Institute.

Approximately 950,000 new cases of colorectal cancer are diagnosed each year. The risk of developing the disease also increases with age, and as life expectancy rises, the incidence continues to grow. These factors paired with rising health care costs have made both diagnosis and treatments for the disease costly. While diet and lifestyle may affect colorectal cancer incidence, so may genetic factors, and it is important to determine which genetic factors are most heavily associated with colorectal cancer incidence.

In order to determine the genetic factors associated with colorectal cancer, Julian Little, Ph.D., of the Department of Epidemiology and Community Medicine at the University of Ottawa and colleagues, gathered data from previously published guidelines for assessing cumulative evidence on genetic association studies, and performed meta-analyses on all the data, compiling all genetic association studies published in the field. The credibility of the studies was determined by the Venice criteria and the Bayesian False Discovery Probability (BFDP) test.

The researchers found 16 independent gene variants had the most highly credible links to colorectal cancer, with 23 variants. “The number of common, low-penetrance variants that appear to be associated with colorectal cancer is very much less than anticipated, therefore decreasing the feasibility of combining variants as a profile in a prediction tool for stratifying screening modalities on primary prevention approaches,” the authors write. Still, they feel that, “the analysis here provides a resource for mining available data and puts into context the sample sizes required for the identification of true associations.”

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