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Posts with tag genetic testing

Not everyone needs a genetic test before taking Camptosar according to study

A study from University of North Carolina at Chapel Hill suggests that not everyone needs a genetic test prior to taking Camptosar (irinotecan).

Irinotecan, also known as Camptosar, is used as a second-line treatment for colorectal cancer. The FDA recommends screening for a gene that could make patients more susceptible to the harmful side effects of the drug, namely neutropenia, which is an abnormally low level of white blood cells.

The UNC researchers analyzed data from nine previous studies of irinotecan. They found that patients who received a medium or high dose had a greater risk of neutropenia if they had two copies of a specific variant of the gene UGTA1. At lower doses of the drug however, the risk was the same regardless of UGTA1 status.

The authors, led by Howard McLeod, Pharm.D., recommends that the FDA amend their guidelines to reflect this knowledge. Changing this guideline may help avoid unnecessary tests and expenses as well as quicken treatment waiting times.

Many parents disclose results of genetic tests related to cancer to children

A new study in the Journal of Clinical Oncology reports that more than half of the parents who have been tested for the BRCA mutation have told the results of the tests to their children (under the age of 25 years old). Some parents reported that their children didn't seem to grasp the significance of the results and some children had negative reactions.

According to the study's author, Angela Bradbury, M.D., more research is needed to understand the impact of communicating this type of information to children.

Genetic testing for adult-onset diseases is discouraged until the age at which interventions could be taken.

What do you think about parents telling their children about the results of such genetic tests? Is this open communication a good thing or could it just be giving children something to worry about before they are ready?

Evolutionary process predicts cancer progression

In understanding the evolution of a tumor, Carlo Maley, Ph.D. and research colleagues at The Wistar Institute suggest, based on research findings, that precancerous tumors containing a population of highly diverse cells were more likely to evolve into cancer than those containing genetically similar cells. Genetic diversity might act as a biomarker for cancer risk among patients with precancerous tissues. During the research, they found a correlation between increased diversity of tumor cells and progression to cancer. For every additional cell variety detected in a tumor, the patient was twice as likely to progress to cancer.

I am encouraged by research being done in this field. In my opinion, understanding genetics will eventually explain why some people get cancer and others do not get cancer, why cancer treatments work for some people and do not work for others, and will lead to individually-designed cancer treatments based on an individual's unique genetic makeup. I told a friend about this discovery and he said, "I don't want to know if I am going to get cancer ahead of time." I said, "I want to know, because then maybe I can do something specific to stop it from happening." If there was a way to predict, with a high degree of accuracy, whether or not you were going to develop cancer, would you want to know ahead of time?

Art credit: "Traces of Information" created by Gerd Maul, Ph.D., and Sue Patterson.

Conference for young women with breast cancer

On February 24th, the 6th Annual Conference for Young Women Affected by Breast Cancer will be held in Denver, Colorado. The three-day event will offer conference participants the latest in medical and quality-of-life information for young women with breast cancer and will include 20 workshops on issues such as: fertility, genetic testing, dating and sexuality, and living with advanced disease. The conference, hosted by Living Beyond Breast Cancer, LBBC, and the Young Survival Coalition, YSC, is the only international conference specifically designed to address the special needs of young breast cancer survivors.

While most young women, between 30-40, do not believe they will be diagnosed with breast cancer, one in every 227 women in this age group will be diagnosed with cancer. Breast cancer is the leading cause of cancer death in young women between the ages of 15-54. Breast cancer in young women tends to be more aggressive and results in lower survival rates. Young women with breast cancer struggle with issues of early menopause, pregnancy after diagnosis and treatment, generally more advanced cancer at diagnosis, and higher mortality rates. The conference is aiming to educate young women about breast cancer risks, serve young women who have been diagnosed with breast cancer, and raise public awareness about breast cancer in young women.

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