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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.

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Increased Risk of Cancer in Other Family Members of Children With Cancer


When a child is diagnosed with cancer, one of the first questions the parents ask is “Will my other children get cancer?” A new study from Huntsman Cancer Institute (HCI) at the University of Utah suggests the answer to that question depends on whether a family history of cancer exists. The research results were published online in the International Journal of Cancer and will appear in the November 15 print issue.

The study, led by Joshua Schiffman, M.D., medical director of HCI’s High Risk Pediatric Cancer Clinic and a pediatric hematologist/oncologist in in the Department of Pediatrics at the University of Utah, examined the family medical history of 4,482 children diagnosed with cancer over a 43-year period to determine the cancer risk in their relatives.

The research team found that when children were diagnosed with any kind of cancer at age 18 or younger, the risk to their parents, siblings, or children for childhood cancer doubled compared to families with no childhood cancer patients. If the cancer diagnosis came when the child was age 4 or less, the risk to close relatives for childhood cancer increased almost four times.

“No one had previously studied the question, so we simply told parents there was no evidence of increased risk to the other children,” said Schiffman. “Now we can give an evidence-based answer — the risk depends on your family history of cancer.”

This is the first study that uses the Utah Population Database (UPDB) to broadly examine the risk of all types of cancer in relatives of children with cancer. This unique resource at the University of Utah links genealogies and cancer registry data from Utah to medical records and vital records, including Utah death certificates.

“Because our data came from the UPDB, the assessment of family history in our study does not rely on self- or family-reported medical history,” said lead author Karen Curtin, Ph.D., a genetic epidemiologist and UPDB assistant director. “Self-reporting of family medical history depends on an individual’s memory, while our data comes from the statewide Utah Cancer Registry that records nearly all cancer cases, which reduces possible errors in reporting family cancers.”

The team also assessed known inherited genetic syndromes in adult relatives of pediatric cancer patients. They found cancers associated with Li-Fraumeni Syndrome (LFS) seemed to be driving the increased risk to relatives in families with a history of cancer.

“Not all children’s cancers are hereditary,” said Schiffman. “But the numbers in this study suggest that the proportion of hereditary childhood cancers may be significantly higher than the 5-10% generally cited in adult hereditary cancers, and likely even more than 20%.

“LFS is one of the most devastating cancer syndromes,” said Schiffman. “It causes a variety of cancers in both children and adults. For people with LFS, the lifetime risk of getting cancer is 80% to 90%, but with increased and early screening for tumors, there’s early indication of a very high survival rate, perhaps even approaching100%. In a previous study, LFS patients who did not receive early screening only had a 20% survival rate.”

Although childhood cancer rarely occurs in the population, based on their findings, the authors recommended collection of three generations of family medical history for all newly diagnosed pediatric cancer patients and referral of families with a history of early-onset cancers in children or adults for genetic counseling. In addition, parents of children diagnosed with cancer before age five with a family history of cancer should be advised of the potential for increased risk to other children in the family.

“We want to encourage the taking of a family history as part of routine care. With all cancers, but perhaps especially with childhood cancers, so many other questions seem so urgent, a family history may not seem to be the most pressing issue,” said co-author Wendy Kohlmann, director of HCI’s Genetic Counseling Program. “When families are referred into genetic counseling, we can provide them with more information about the risks and actions they can take.”

“For families with previously unidentified LFS, following these recommendations could actually save the lives of multiple family members if at risk individuals are identified and early cancer surveillance programs implemented,” Schiffman said.


Journal Reference:

  1. Karen Curtin, Ken R. Smith, Alison Fraser, Richard Pimentel, Wendy Kohlmann, Joshua D. Schiffman. Familial risk of childhood cancer and tumors in the li-fraumeni spectrum in the utah population database: Implications for genetic evaluation in pediatric practice. International Journal of Cancer, 2013; DOI: 10.1002/ijc.28266

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