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Underutilisation of Germline Genetic Testing

Real-world Patterns of Genetic Testing in Urologic Malignancies: Guideline Recommendations Versus Clinical Practice

https://www.goldjournal.net/article/S0090-4295(26)00318-3/abstract

Of >125K eligible patients w/ cancer these had germline testing:
kidneycancer 9%
adrenalcancer 9%
UTUC 16%
bladdercancer 8%
prostatecancer 10%

100% of the above patients w/ urologiccancer met guideline eligibility for #genetictesting

Conclusion

Despite clear guideline recommendations, genetic testing remains underutilised across urologic cancers, with significant disparities by disease type, age, and race.

These results emphasize the importance of ongoing provider education, system-level support, and equity-focused strategies to enhance uptake of genetic testing in urologic oncology practice.

Somatic and Germline Genetic Testing

Somatic testing and germline testing are two distinct types of genetic analyses: somatic testing evaluates acquired mutations inside tumor cells, germline testing detects inherited mutations present in all healthy cells, and both provide vital insights for cancer treatment and risk assessment. 

https://s3-us-west-2.amazonaws.com/utsw-patientcare-web-production/documents/Somatic_vs_Germline_Fact_Sheet.pdf

𝗨𝗻𝗱𝗲𝗿𝘀𝘁𝗮𝗻𝗱𝗶𝗻𝗴 𝘆𝗼𝘂𝗿 𝗴𝗲𝗻𝗲𝘁𝗶𝗰 𝗿𝗶𝘀𝗸 𝗶𝘀 𝘁𝗵𝗲 𝗳𝗶𝗿𝘀𝘁 𝘀𝘁𝗲𝗽 𝘁𝗼𝘄𝗮𝗿𝗱𝘀 𝗲𝗳𝗳𝗲𝗰𝘁𝗶𝘃𝗲 𝗽𝗿𝗲𝘃𝗲𝗻𝘁𝗶𝗼𝗻.

While cancer can develop in anyone as a result of environmental factors or ageing, individuals with Lynch syndrome carry an inherited genetic variant that impairs the body‘s ability to repair DNA replication errors. This mismatch repair deficiency substantially increases the lifetime risk of developing colorectal, endometrial and other cancers, frequently at an earlier age than in the general population.

PREDI-LYNCH was established to address precisely this difference: standard screening protocols are not sufficient for high-risk families, and precision tools adapted to genetic risk are required.

Learn more at https://predi-lynch.eu/

Patient Advocates Events Insights

What value do patient advocates and people with lived experiences bring to researchers, healthcare professionals, and industry during scientific conferences?

We remind them that scientific innovations should be focused on what truly matters to us-the patients-and that behind every piece of data is a person, a loved one, and a life that matters.

https://oncodaily.com/voices/patient-advocates-events-559174

Germline testing in urothelial cancer: A narrative review of evidence, guidelines, and testing frameworks

Urothelial cancer is a type of cancer that begins in the urothelial cells lining the inside of the bladder, ureters, or renal pelvis of the kidney. I

Highlights
  • •Germline P/LP variants occur in 10% to 15% of urothelial cancers, up to 20% in UTUC.
  • •Lynch syndrome is the leading hereditary cause; MSH2 confers the highest risk.
  • •MMR-deficient tumours, seen in Lynch, are highly sensitive to immune checkpoint inhibition.
  • •Tumour MMR screening is imperfect and limited by scarce tissue in UTUC biopsies.
  • •Universal germline testing in UTUC and a bladder cancer framework are overdue.

https://www.sciencedirect.com/science/article/abs/pii/S1078143926005971

Prevalence of functional impairments in older, community-dwelling adults with and without a history of cancer: Analysis of wave 1 of the Irish longitudinal study on ageing (TILDA)

This study used information from The Irish Longitudinal Study on Ageing (TILDA) to compare the everyday physical functioning of older adults who had previously been diagnosed with cancer with those who had never had cancer.

Researchers found that older cancer survivors were more likely to experience difficulties with physical function, such as problems with mobility, balance, strength, or carrying out everyday activities. However, many cancer survivors were living independently and functioning well in their communities.

The findings suggest that a history of cancer may contribute to age-related physical decline, highlighting the importance of regular assessment, exercise, rehabilitation, and supportive care to help older cancer survivors maintain their independence and quality of life.

Key message: As more people survive cancer and live into older age, healthcare services should focus not only on treating cancer but also on supporting long-term physical function and healthy ageing.

https://www.sciencedirect.com/science/article/pii/S1879406826001918

Preventive hysterectomy and quality of life: new research highlights the need for tailored support

What was the study about?

The researchers wanted to understand how women with Lynch syndrome feel after having a preventive hysterectomy(surgery to remove the uterus, sometimes along with the ovaries) to lower their risk of womb cancer. They looked at quality of life, emotional wellbeing, menopause symptoms, sexual health, and whether women regretted their decision. 

What did they find?

The good news:

  • Most women were happy they had the surgery.
  • Very few said they regretted their decision.
  • Many reported much less anxiety about developing womb cancer after surgery.
  • Overall quality of life was generally good, especially when menopause symptoms were well managed. 

The biggest challenge:

  • Women who had their ovaries removed before natural menopause often experienced significant menopausal symptoms, such as:
    • hot flushes
    • night sweats
    • vaginal dryness
    • lower sex drive
    • mood changes
    • sleep problems
  • These symptoms were much less severe in women who used hormone replacement therapy (HRT), when it was appropriate for them. 

Did it affect sex life?

For most women, sexual function was not dramatically worse after surgery. Some experienced changes, particularly if they went into surgical menopause, but many remained satisfied with their sexual relationships, especially when menopause symptoms were treated. 

What does this mean for someone with Lynch syndrome?

The study suggests that:

  • Preventive hysterectomy can provide significant peace of mind by greatly reducing the risk of endometrial (womb) cancer.
  • The decision isn’t just about preventing cancer—it’s also about preparing for the effects of surgery, particularly if the ovaries are removed.
  • Good counselling before surgery and appropriate HRT afterwards (for women who can safely take it) can make a big difference to quality of life. 

The bottom line

The message is reassuring rather than alarming. Most women with Lynch syndrome who chose preventive hysterectomy felt it was the right decision, experienced less worry about cancer, and had a good quality of life afterwards. The main issue wasn’t the hysterectomy itself—it was managing the symptoms of early menopause if the ovaries were also removed, and HRT helped many women cope with those symptoms. 

https://www.lynch-syndrome-uk.org/post/preventive-hysterectomy-quality-of-life-study

Why Biomarkers?

Many clinical trials are designed around biomarkers. Biomarkers are the backbone of personalised medicine.

https://www.gicancersalliance.org/test-your-biomarker

The gut microbiome as a biomarker and modifiable risk factor in Lynch Syndrome

ABSTRACT

https://link.springer.com/article/10.1007/s10689-026-00540-9

Germline testing in urothelial cancer: A narrative review of evidence, guidelines, and testing frameworks

Highlights

•Germline P/LP variants occur in 10% to 15% of urothelial cancers, up to 20% in UTUC.

•Lynch syndrome is the leading hereditary cause; MSH2 confers the highest risk.

•MMR-deficient tumors, seen in Lynch, are highly sensitive to immune checkpoint inhibition.

•Tumor MMR screening is imperfect and limited by scarce tissue in UTUC biopsies.•Universal germline testing in UTUC and a bladder cancer framework are overdue

https://www.sciencedirect.com/science/article/abs/pii/S1470204526002159?dgcid=coauthor