Category: Genetic Testing

I have a VUS (Variant of Uncertain Significance) Now what?

When you agree to genetic testing, you expect a yes or no answer:  yes, you have an abnormal change in a gene that increases your cancer risk, or no, you don’t. But sometimes, you might not get a clear “yes” or “no.” You might just get a “maybe.”

Are genetic variants of uncertain significance common?

Almost 20% of genetic tests identify a VUS. These tests come in different “sizes.” Some examine only a handful of genes associated with cancer at a time, while others analyze up to 80 genes. The more genes you look at, the more variants of uncertain significance you’ll find.

https://www.mdanderson.org/prevention-screening/family-history/genetic-testing.html

Genetic testing for cancer: Why it makes sense

Genetic testing has several important implications in the management of cancer

Genetic testing is generally done for patients with a significant family history of cancer, or some specific patterns of presentation of cancer. If a causative germline mutation is identified, the individual’s family members are also screened for it.

Thus, a cancer patient who gets suitable genetic testing done also helps save lives of family members by making them aware of any causative mutation present in their genes.

https://www.firstpost.com/health/genetic-testing-for-cancer-why-it-makes-sense-11582751.html

What is Inherited Cancer?

Benefits and Drawbacks of Genetic Testing:

• Can identify those at risk of developing further cancer • Control/manage risks
• Can sometimes direct surgical/treatment options
• Explanation for why cancer had occurred

•Psychological/emotional impact

Can allow predictive testing of other relatives


• Identify those at risk- appropriate screening/risk reducing surgery • Increased anxiety/worry and guilt

Click to access What%20is%20Inherited%20Cancer%20Eoin%20Hanney_0.pdf

23andMe DNA Test Kit review

Cons:

*The results are not suitable for clinical use

*Sharing your genetic and health data with a large company

*Smaller ancestry database than some larger companies

https://www.livescience.com/23andMe-DNA-Test-Kit-review

Germline and Somatic Variants: What Is the Difference?

Cancers caused by germline pathogenic variants are called inherited or hereditary. More than 50 different hereditary cancer syndromes have been identified that can be passed from one generation to the next e.g. Lynch Syndrome

https://voice.ons.org/news-and-views/germline-and-somatic-variants-what-is-the-difference

Have you been diagnosed with Lynch syndrome?

FORCE(USA) has compiled resources and information to help people make informed decisions and receive support.

People diagnosed with Lynch syndrome have an increased risk for colorectal, endometrial and other cancers. Options are available for cancer treatment, screening and prevention for people with Lynch syndrome.

https://www.facingourrisk.org/portal/people-with-lynch-syndrome

ThisisGO.ie

Another brilliant resource now available for women living with/beyond and with a predisposition to cancer.

Phase 3 live now

-400 women are diagnosed with Uterine cancer every year. 70-80% diagnosed are living with obesity.

Log on to https://thisisgo.ie/?fbclid=IwAR13F4M_K4vkAjBjD__7C7zDvxQdpgWuSW-IQnmA3JX9LePG9QDh9qay_X8 for accurate info.

thisisgo.ie Cancer Genetics Section

Women’s health resources has just gotten a whole lot better! With the launch of http://thisisgo.ie cancer genetics today.

“We see women and their families impacted by gynaecological cancer as partners in their care” 

Two Fellows Use Online Resources to Boost Genetic Testing

The most commonly cited barriers to testing are lack of awareness, difficulty of access, and cost. (USA)….despite known benefits, uptake for genetic testing has been slow: only 1 in 5 individuals use recommended genetic services even when there is a significant family history of colorectal, breast, or ovarian cancer.

Early detection of hereditary cancers and subsequent medical or surgical intervention decreases mortality, therefore this missed opportunity means an immense loss of lives.

https://www.onclive.com/view/two-fellows-use-online-resources-to-boost-genetic-testing