Showing posts with label genetic testing. Show all posts
Showing posts with label genetic testing. Show all posts

Thursday, August 6, 2009

New Frontiers in Schizophrenia and Bipolar Disorder Research

Here's a video from the Department of Brain and Cognitive Sciences at MIT. The title of this video is: "New Frontiers in Schizophrenia and Bipolar Disorder Research" and the presenter is Dr. Edward Scolnick, Director, Psychiatric Disease Program and the Stanley Center for Psychiatric Research at the Broad Institute. At the Broad Institute, Edward Scolnick, MD works to identify risk genes for bipolar disorder and schizophrenia.

Wednesday, August 5, 2009

DNA testing in children, talents, and privacy in China

In China, scientists (probably along with some government officials) are performing genetic tests in young kids to identify skills and talents by analyzing their DNA. That's right, no personal privacy issues here. Submit a DNA sample to see what talents your parents should cultivate. Is this ethical? This is a fascinating video.

Friday, May 22, 2009

Is Breast Cancer a Different Disease in Young Women?


We often think of breast cancer as primarily being a disease that affects older individuals. However, there are many cases of young, healthy women developing breast cancer and most of them have positive genetic markers to genes like BRCA1 and BRCA2. These genes are currently implicated in the majority of inherited breast (and even ovarian) cancers.

When breast cancer hits a really young woman (say in her early 30's), is it an entirely different disease? This seems to be an area that causes confusion in the oncology community. In a recent CME-certified activity titled, "Breast Cancer in Women Under 40," Jeffrey Peppercorn, MD, MPH discusses this issue. He remarks how breast cancer in women under 40 are more likely to be:
  • estrogen receptor-negative (or ER negative)
  • higher grade
  • HER2-positive
Plus, he indicates that "young African-American women are more likely to have triple-negative breast cancer (estrogen receptor–negative, progesterone receptor–negative, and HER2-negative)."

Advances in medical science are helping us understand the disease process of cancer as researchers explore different treatment options including chemotherapy, hormone therapy, radiation, and other modalities. With all these advances in medicine and technology, will we ever find a cure for breast cancer?

Speaking of breast cancer, one topic I don't think anyone really understands is the spontaneous regression of tumors (when tumors disappear by themselves). It's very rare, but it does occur. Miracle healings! One minute you're told you have a tumor, the next minute it's gone! Do modern day miracles still happen? I believe they do. Scientists have postulated various mechanisms by which tumors may disappear by themselves. One researcher lists these possible explanations: "immune mediation, tumor inhibition by growth factors and/or cytokines, induction of differentiation, hormonal mediation, elimination of a carcinogen, tumor necrosis and/or angiogenesis inhibition, psychologic factors, apoptosis and epigenetic mechanisms." The list doesn't include supernatural healings, but psychologic factors? I'm not so sure about that.

If we can gain a better understanding of why certain tumors may disappear by themselves, then this information may someday lead to a cure for cancer. I'd like to see more research on the topic of spontaneous regression.

Saturday, March 29, 2008

Home Genetic Testing


At-home paternity DNA testing is available. What will be next? Huntington's disease testing? BRCA testing for breast and other cancers?

Many patients do not understand the full implications of genetic testing results. These tests never have 100% sensitivity or specificity. Therefore, false results may occur. However, if people can purchase such genetic tests online or at a local pharmacy, many will want to use them without receiving proper guidance. Genetic counseling is such an integral part of the testing process. This will be lacking if patients are doing the tests on their own.