Category: Prevention

Screening for Lynch Syndrome in people aged 18-40 using a saliva test

A new Australian study published in The Lancet suggests population-wide genetic screening for hereditary breast and ovarian cancer, familial hypercholesterolemia and Lynch syndrome, in people aged 18 to 40, would be cost effective and save lives.

Modelling demonstrates a marked improvement in the overall cost-effectiveness of offering population genomic screening in a combined fashion for multiple conditions together, versus criteria-based clinical genetic testing or screening for individual conditions.

The model structure can be applied to other healthcare systems, making our findings relevant for international jurisdictions, especially countries with national public healthcare systems capable of delivering nation-wide population screening programs.

https://www.thelancet.com/journals/eclinm/article/PIIS2589-5370(23)00474-1/fulltext

Lynch syndrome quick guide for Primary Care clinicians(NHS)

The training involves watching a short video which covers:

  • A brief overview of Lynch syndrome
  • Their personalised cancer prevention programme
  • An introduction to the Lynch syndrome quick guide and how it can help you identify and manage your patient’s care
  • How to manage their first-degree family members’ care
Lynch Syndrome online training for primary care clinicians

So how would I like to change healthcare? Part 1 of 3

I would like to see a dedicated organisation, with patients involved, looking at excellence in treatment

  • This would not be an ever changing government looking at their own interests or survival.
  • I would like to see centres of excellence, not general hospitals telling you, ‘There is no chance’
  • I would like to see patients as the focus of their treatment, NOT their symptoms!

Guidelines for the management of hereditary colorectal cancer from the British Society of Gastroenterology (BSG)/Association of Coloproctology of Great Britain and Ireland (ACPGBI)/United Kingdom Cancer Genetics Group (UKCGG) -2019

Lynch syndrome (LS)

  • We recommend that for all people when first diagnosed with CRC, testing using immunohistochemistry (IHC) for MMR proteins or microsatellite instability is used to identify tumours with deficient DNA MMR, and to guide further sequential testing for LS. (GRADE of evidence: moderate; Strength of recommendation: strong)
  • We recommend that colonoscopic surveillance should be performed at a 2 yearly interval for all LS patients. (GRADE of evidence: moderate; Strength of recommendation: strong)
  • We recommend that age of onset of surveillance colonoscopy should be stratified according to the LS-associated gene. We recommend colonoscopy from age 25 years for MLH1 and MSH2 mutation carriers and 35 years for MSH6 and PMS2mutation carriers. There are insufficient data to support stratifying age of onset of surveillance by gender. (GRADE of evidence: moderate; Strength of recommendation: strong)
  • We suggest that for LS patients with MLH1 or MSH2 mutations who develop colon cancer or colonic neoplasia not amenable to endoscopic control, the decision to perform segmental versus total/near total colectomy should balance the risks of metachronous cancer, the functional consequences of surgery, the patient’s age and patient’s wishes. (GRADE of evidence: Moderate; Strength of recommendation: strong)
  • We recommend that for LS patients with MSH6 or PMS2 mutations there is insufficient evidence for oncological benefit of extended colectomy over segmental resection. (GRADE of evidence: low; Strength of recommendation: strong)
  • We suggest that when abdominal-perineal excision can be avoided, a standard low anterior resection is a reasonable option to treat rectal cancers in LS patients, even though the residual colon is at high-risk of metachronous neoplasia. (GRADE of evidence: low; Strength of recommendation: weak)
  • We recommend that gastric, small bowel, or pancreatic surveillance in LS patients is only performed in the context of a clinical trial. (GRADE of evidence: low; Strength of recommendation: strong)
  • We recommend screening for H elicobacter pylori in patients with LS and subsequent eradication therapy if indicated. (GRADE of evidence: low; Strength of recommendation: strong)

https://gut.bmj.com/content/69/3/411

Aging After Oophorectomy

“In navigating the effects of accelerated aging post-oophorectomy, HRT can be an essential tool for those who have not achieved menopause. While it can alleviate various symptoms and health risks, it is crucial to discuss its potential benefits and drawbacks with a healthcare provider.”

https://www.curetoday.com/view/aging-after-oophorectomy

Exploring Stakeholders’ Perspectives on Implementing Universal Germline Testing for Colorectal Cancer: Findings From a Clinical Practice Survey

CONCLUSION: This study(Eighty CGA-IGC members participated) demonstrates wide support among hereditary GI cancer experts for implementation of UGT for patients with CRC. However, alternative service delivery models using nongenetics providers should be considered to address the logistical barriers to UGT implementation, particularly the growing demand for genetic testing.

In conclusion, there is broad support for UGT for all newly diagnosed patients with CRC among the members of the CGA-IGC.

However, changes to practice, such as alternative service delivery models or standardization of test choice, will likely have to be implemented to meet the increased patient volume.

Additional studies are needed to compare UGT implementation strategies (eg, traditional or alternative service delivery models) to ensure there is equitable access to genetic testing and improved outcomes for patients with CRC.

https://ascopubs.org/doi/full/10.1200/PO.23.00440

The ins and outs and ups and downs of a colonoscopy

So what is a colonoscopy?

A colonoscopy is a test to look at your bowel using a small camera. The test looks for any small growths called polyps, or signs of disease, such as bowel cancer. If polyps are found they are usually removed during the test. This will reduce the risk of cancer developing. If they are not removed they might turn into cancer. If bowel cancer is found early, it’s easier to treat and there’s a better chance of recovery.

https://bit.ly/3lWzc80

(thisisGO.ie) is an online personalised resource for you and yours who have been impacted by a gynaecological cancer.

Phase 1 was launched on September 20th 2021.  It is a personalised
online resource for women impacted by cervical cancer. If you have a partner in your life, this platform can also support them. If you are a health care provider working in the area this can also support you and your
practice. 

If you are newly diagnosed, receiving treatment, in surveillance
or living well with and beyond cancer thisisGO.ie has information that is
tailored to meet your needs.

During 2022 the remaining 4 gynaecological cancers Ovarian, Uterine, Vulval and Vaginal were launched as well as the addition of a genetic pathway for those impacted by BRCA and Lynch Syndrome. 

Genetic testing and the future of medicine

More common signs of hereditary cancer include:

  • Multiple cases of cancer on the same side of the family, especially breast, colorectal, endometrial or ovarian cancers.
  • Cancer diagnosed before age 50, especially breast, colorectal or endometrial.
  • Rare cancers at any age, including:
    • ovarian
    • pancreatic
    • male breast
    • metastatic prostate

The future of genetic testing

Dr. Steiner is optimistic about the future of genetic testing and how it can impact healthcare care. “I think in the not-too-distant future, everybody will have comprehensive genetic testing done in order to prepare healthcare providers for any future issues a patient might develop.”

When that happens, genetic testing will be used more often to help people and their healthcare providers prevent unexpected diagnoses.

https://www.facingourrisk.org/XRAY/genetic-testing-and-future-of-medicine

The English National Lynch Syndrome transformation project: an NHS Genomic Medicine Service Alliance (GMSA) programme

Conclusion: This ongoing transformational project is strongly supported by stakeholders in England. Significant quality improvement has been implemented, facilitating systematic delivery of universal testing for LS nationally and reduction in variation in care.

“Only by ‘mainstreaming’ of genetic testing by the same cancer multidisciplinary teams that diagnose and treat cancer locally can we ever hope to effectively find diagnoses of Lynch syndrome and open up the door to better cancer prevention survival” Kevin Monaghan(Gastroenterologist from @StMarksGenomics)