Blog

The experience of receiving a letter from a cancer genetics clinic about risk for hereditary cancer

Disclosure of genetic information raises ethical issues, mainly concerning autonomy, confidentiality, duty of beneficence, moral responsibility, and feasibility. The rights and duties of patients, relatives, and healthcare professionals are intertwined.

We suggest that healthcare professionals experienced in genetic counselling can consider disclosing risk by direct letter to at-risk relatives while taking into account the benefits of a family-mediated first contact and that counselling must be easily accessed when relatives want to make contact.

Direct contact has to be implemented in a framework of ethical considerations and good practice and tailored for both the individual patient and relatives.

https://www.nature.com/articles/s41431-024-01551-9#Abs1

(note: small sample)

Finding the missing 95%: Unlocking the potential of Lynch syndrome services

In recent years, breakthroughs in genetics and DNA testing have revolutionised healthcare, especially in cancer diagnosis, treatment, and care. By examining a person’s genes, we can now identify people at higher risk of developing certain cancers.

This allows healthcare providers to detect cancers at an earlier stage and make informed decisions about cancer management and surveillance. Crucially, they can also offer more effective personalised treatments and prevention strategies based on the patient’s genetic profile.

Report found:

  • There have been significant improvements in genetic testing for bowel cancer patients, with an average of 9 in 10 newly diagnosed bowel cancer patients being tested over the last financial year, but workforce and capacity issues are still barriers. 
  • Half of health authorities who responded, reported that family members of people with Lynch syndrome aren’t offered letters they can take to their GP, which is one route to accessing genetic counselling and testing. 
  • A postcode lottery for life-saving routine surveillance colonoscopies exists. Although surveillance is offered to all Lynch syndrome patients in England through the Bowel Cancer Screening Programme, only 6 in 10 health authorities across Scotland, Wales and Northern Ireland offer surveillance colonoscopies in line with clinical guidance. 
  • Major gaps in data collection and reporting on Lynch guidance and services are holding back Lynch syndrome care. 

Testing all newly diagnosed bowel cancer patients for Lynch syndrome and implementing routine colonoscopic surveillance are crucial steps in meeting the early diagnosis goals set by governments and health services nationwide.

Click to access bowel_cancer_uk_unlocking_the_potential_of_lynch_syndrome_services.pdf

Cancer ghosting: ‘People don’t talk about it because it’s embarrassing to admit that people just run away from you – but it’s very common’

Clodagh Downing was experiencing symptoms for at least two years before her diagnosis of colorectal cancer, including recurring infections, an allergy to dairy, irregular bowel movements and bloating. Her blood tests were clear but when she developed fatigue and anaemia, a Google search suggested bowel cancer. In January 2021, she asked her GP for a colonoscopy. But at 48, her doctor told her she was too young.

Talking with Children About Adult-Onset Hereditary Cancer Risk:

Often complicated by the parent’s ongoing adjustment to their mutation status, guilt at potential transmission of the mutation to the child, concern over inciting distress in children, and the varied capacities of children in the home to understand genetic information.

Optimally, communication about inherited cancer risk is an open, ongoing process within the family. 

https://www.researchgate.net/publication/322811101_Talking_with_Children_About_Adult-Onset_Hereditary_Cancer_Risk_A_Developmental_Approach_for_Parents

Early-Onset GI Cancers: Rising Trends, Genetic Risks, Novel Strategies, and Special Considerations

Understanding the complex interplay between host factors such as gPVs (Germline Pathogenic Variant), gut microbiome, and extrinsic environmental factors will be critical to mitigate the rising incidence of EO cancer globally, particularly across the spectrum of GI cancers.

Practical Applications

Awareness of the early-onset (EO) cancer epidemic should prompt heightened vigilance among health care providers caring for patients who would not be historically considered at high risk for cancer.

Early detection of symptoms with appropriate diagnostic testing is critical to obtaining a cancer diagnosis in earlier stages which may allow for a greater chance of curative approaches.

Multidisciplinary management of patients with EO cancers is critical to address unique and challenging issues that younger populations must navigate, including family, social, career, and financial stress.

Genetic counselling and testing are critical components to multidisciplinary care and may elucidate mechanisms of EO cancer development.

https://ascopubs.org/doi/full/10.1200/EDBK_398068

Study Finds New Role For Vitamin D In Cancer Treatment

“These results suggest that vitamin D supplementation in patients with lower levels of vitamin D may reduce peripheral neuropathy, and particularly high-grade peripheral neuropathy, which would improve these patients’ long-term quality of life,” said senior researcher Daniel L. Hertz, PharmD, PhD, of the University of Michigan College of Pharmacy.

Study Finds New Role for Vitamin D in Cancer Treatment

Remembering My Brother Who Died of Cancer

Survivor guilt is a complex emotion that often plagues those who have lost loved ones to illness.

I question myself with overwhelming questions often: “Why have I not developed cancer? Why have I outlived him? Why did he have to die?” And “What could we as a family have done differently?

I have turned my grief into action and strive to make a positive impact in the fight against Lynch syndrome and its devastating consequences — his death has not been in vain.

https://www.curetoday.com/view/remembering-my-brother-who-died-of-cancer

Landmark national study supports use of whole genome sequencing in standard cancer care(UK)

In the largest study of its kind, scientists today report how combining health data with whole genome sequence (WGS) data in patients with cancer can help doctors provide more tailored care for their patients.

This research uncovered significant findings across different cancer types, such as: 

  • Over 90% of brain tumours and over 50% of colon and lung cancers showed genetic changes that could affect how patients are treated, guiding decisions about surgery or specific treatments they might need. 
  • In more than 10% of sarcomas, larger DNA changes, known as structural variants, were identified that can impact clinical care and treatment. 
  • In over 10% of ovarian cancers, the study pinpointed inherited risks offering crucial insights for clinical care.

The findings show the value of combining genomic and clinical data at scale to help healthcare professionals make the best treatment decisions with their patients.

https://www.genomicsengland.co.uk/news/landmark-national-study-supports-use-of-whole-genome-sequencing-in-standard-cancer-care