Category: Genetic Testing

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

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)

NCCN guidelines

Genetic/Familial High-Risk Assessment: Colorectal

– Adenomatous Polyposis Testing Criteria

– Attenuated Familial Adenomatous Polyposis

– Colonic Adenomatous Polyposis of Unknown Etiology

– Familial Adenomatous Polyposis

– Juvenile Polyposis Syndrome

– Lynch Syndrome

– MUTYH-Associated Polyposis

– Peutz-Jeghers Syndrome

– Serrated Polyposis Syndrome

When Your Family Is Impacted by Hereditary Cancer – An Interview with My Sister

Cancer is scary and heredity (not just BRCA mutations) plays a huge role in some families.

Launch of Hereditary Cancer Model of Care (Ireland)

Hereditary Cancer Model of Care provides the blueprint for the necessary development of services for the identification and management of people with an inherited cancer predisposition (e.g. Lynch syndrome or BRCA gene cancer risk), in order to harness the power of genetics to reduce cancer risk, and improve patient outcomes and quality of life.

The model of care will ensure/support the development of:

  • Development of national guidance to underpin standardised best practice, including mainstreaming of cancer genetic testing
  • Equitable access to hereditary cancer services for all
  • Clear governance and clarity regarding the roles of national genetics and genomic structures, specialist cancer genetics services and regional cancer predisposition services, within an overarching model of care
  • Commitment to the Sláintecare principles of right person, right place, right time – through the integration of genetic assessment and testing into regional services, with access to specialist genetic expertise as required
  • Maximal use of technological solutions
  • Timely access to genetics assessment and testing, including specialist cancer genetics expertise as required
  • Timely access to clinical management of cancer predisposition, including risk reduction options
  • Comprehensive and coordinated approaches to ongoing management
  • Quality assurance of service
  • Access to high quality patient information, psychological support and peer support for patients
  • Education and training of health care professionals, including accredited training for those delivering mainstreamed pathways

https://www.hse.ie/eng/services/list/5/cancer/news/launch-of-hereditary-cancer-model-of-care.html?fbclid=IwAR3vT3_RDbmNM4YhcTQFjNj_mxPEfoFHrIBut6iukmsFyxs2FkHj2hDdbGw

A Guide to Lynch Syndrome

Lynch Syndrome is an inherited condition that increases your risk of developing some cancers, including bowel, womb and ovarian cancer. This is a guide to run through everything you need to know about Lynch.

Lynch Syndrome

This guide has been made with input from experts, people with Lynch Syndrome and Ask Eve nurses to provide you with all the information you need when offered testing for, or navigating a diagnosis of, Lynch Syndrome.  

We also have an Easy Read guide to Lynch Syndrome, which you can download here 

Philadelphia Girl, 14, Battling Three Cancers Simultaneously Hoping For a Breakthrough— The Rare Genetic Disorder Involved — How To Screen

Discovering that you or a family member have Lynch syndrome, Li-Fraumeni syndrome, or the BRCA1 and BRCA2 gene mutation, which increases the risk of developing breast and ovarian cancer, can be life-saving.

https://www.survivornet.com/articles/li-fraumeni-syndrome-importance-genetic-testing-sarcomas/

Why do we need to know if your cancer is hereditary?

If you find out your cancer is hereditary, knowing which gene mutations are involved enables you to:

• tailor your cancer treatments to your particular cancer, when possible;

 • take available steps to decrease your risk of developing other cancers; and 

• help your family members minimize their risk of cancer.

What if you don’t want to know?

Part of you may not want to know if your cancer is hereditary. Listen to the part of you that wants to do the best thing for your health and for your family. Finding out you have a mutation can be upsetting. Yet many patients report feeling relief and a renewed sense of control: “Learning I have a mutation does not change what is. It changes what I can do about what is.”

Click to access Your_Genetic_Inheritance_PHO.pdf

Family history of Colorectal cancer – what’s next?

Expert Guest Kevin Monaghan,Gastroenterologist from @StMarksGenomics with an interest in hereditary bowel cancer.

8th UEG Talks #Podcast episode!

🎙️

http://ueg.eu/podcast Listen to our esteemed host,

@pradeepmundre, and expert guest

@kevinjmonahan