Patient-facing genetic and genomic mobile apps in the UK: a systematic review of content, functionality, and quality(2022)

This systematic review of patient-facing genetic/genomic mobile apps explores content, function, and quality.

Conclusion: It was evident that there are few high-quality genomic/genetic patient-facing apps available in the UK. This demonstrates a need for an accessible, culturally sensitive, evidence-based app to improve genetic literacy within patient populations and specific communities.

Has this changed?

Study: Immunotherapy improves outcomes of advanced endometrial cancer

Standard treatment for advanced endometrial cancer may soon change. A study found that people with advanced or recurrent endometrial cancer who received immunotherapy with chemotherapy had better outcomes than those who had chemotherapy alone. 

https://www.facingourrisk.org/XRAY/immunotherapy-improves-advanced-endometrial-cancer-outcomes

Pembrolizumab plus Chemotherapy in Advanced Endometrial Cancer

CONCLUSIONS

In patients with advanced or recurrent endometrial cancer, the addition of pembrolizumab to standard chemotherapy resulted in significantly longer progression-free survival than with chemotherapy alone. 

https://www.nejm.org/doi/full/10.1056/NEJMoa2302312

PROTECTOR study (UK)

Current research points towards ovarian cancer beginning in the fallopian tube and not in the ovary itself.

This is where PROTECTOR comes in, with the theory being that removing the tube alone will help prevent cancer while being able to preserve fertility and avoid early menopause which comes with symptoms and long term health issues like hot flushes, sweats, mood changes, thinning of the bones, memory problems, higher risk of heart disease, and reduced libido.

Lynch syndrome genetic testing

A simple test using saliva or blood to determine if there is some type of mutation that will predispose you to certain types of cancers.

Knowing your family history

Preventative screening just part of our lives….

Coping with a Lynch Syndrome Diagnosis

What do you need to do to get yourself from getting a cancer…

Understanding what it means and educating yourself…

Lynch Syndrome as a Family Diagnosis

It’s a Family diagnosis.

Open communication is important.

Knowledge is power.

Why would you not want to know???

Uptake of hysterectomy and bilateral salpingo-oophorectomy in carriers of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report(2021)

Conclusion:

Uptake of RRS before 50 years of age was low, and RRS was rarely undertaken in association with surgical treatment of CRC.

Uptake of RRS aligned poorly with gene- and age-associated risk estimates for endometrial or ovarian cancer that were published recently from PLSD and did not correspond well with current clinical guidelines.

The reasons should be clarified. Decision-making on opting for or against RRS and its timing should be better aligned with predicted risk and mortality for endometrial and ovarian cancer in Lynch syndrome to improve outcomes.

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8916840/

Genetic predisposition to gastrointestinal polyposis:

https://www.thelancet.com/journals/langas/article/PIIS2468-1253(23)00240-6/fulltext

This Review provides an overview of the known syndromes and genes, genetic testing, and clinical management of patients with polyposis, and recent advances and challenges in the field of gastrointestinal polyposis.