Talk

Sounds like the WTC rescue workers who have had serious lung disease problems have a genetic disorder that increases risk of COPD and lung disease when combined with environmental factors (such as smoke, particulates and the like). This condition, called Alpha-1 Antitrypsin Deficiency, is suspected as being as one of the biggest unknown, and underdiagnosed, genetic conditions.

Since DNA Direct has Alpha-1 testing services, I’m going to let an article from Medical News Today tell you about why this is big news: (more…)

Widespread Study - Adverse Drug Reactions. A study developed by the CDC, FDA and Consumer Product Safety commission shows that harmful reactions to medicines send more than 700,000 Americans to emergency rooms each year. Over 700,000. to the emergency room. The study’s authors and other experts agree that this number is probably low because bad drug reactions are also likely to be misdiagnosed. This is yet another reason why PGx testing can revolutionize medicine.

New Gene May Help Predict and Treat Chronic Pain. People who have a certain gene variant are at lower risk of developing severe chronic pain and are less sensitive to painful stimuli, researchers report. Besides the potential for diagnosing the risk of chronic pain, the discovery offers a starting point for identifying new painkillers.

Portraits of an Artist with Alzheimer’s. A talented artist throughout his life, William Utermohlen provided a window into the experience of Alzheimer’s from the individual’s perspective. While there are some genetic markers associated with Alzheimer’s, their relationship isn’t fully mapped out yet and so testing for risk isn’t ready for prime time. While DNA Direct often receives calls from people wanting “a genetic test for Alzheimer’s”, we don’t offer testing for multiple reasons (see the comments below this post).

In Case of Emergency: ICE Your Cellphone. To aid emergency workers, doctors are encouraging people to add an “ICE” contact into their cellphones. ICE stands for “in case of emergency” and provides emergency workers with a way to find your nearest and dearest, as quickly as possible, should you be unable to communicate with them. Everyone, go program your phones now!

Technorati Tags: adverse drug reactions, side effects, medication, statistics, genes, pgx, pharmacogenetics, painkillers, chronic pain, alzheimer’s disease, ice

Almost every ethnic or demographic group has higher rates of certain genetic diseases than the general population. There are a number of genetic conditions that are relatively unknown, but terribly debilitating – and all occur most frequently in people with Ashkenazi Jewish ancestry:

• Bloom’s Syndrome
• Canavan Disease
• Familial Dysautonomia
• Fanconia Anemia
• Gaucher Disease
• Mucolipidosis IV
• Niemann-Pick Disease
• Torsion Dystonia
• Tay-Sachs Disease

How is it possible that certain diseases are more common within the Ashkenazi Jewish population? (more…)

Ryan (the CEO and founder of DNA Direct) and I just returned from an FDA meeting where members of the Clinical Pharmacology Subcommittee, a group composed of doctors and researchers, made an important decision about the breast cancer drug tamoxifen. As Lisa Lee described last week, the purpose of this meeting was to decide whether to recommend changing the tamoxifen package insert, also known as the drug label, to include information about how the 2D6 gene is a predictor of response to tamoxifen.

Clearly the decision of the Subcommittee is a historic moment, both for the emerging field of pharmacogenetics (or how genes influence a patient’s response to drugs) and, most importantly, for the breast cancer community. After all, hundreds of thousands of women are on the drug tamoxifen, and more women are put on the drug every day. The fact that some of them may not be receiving full benefit from tamoxifen because of their genes — therefore increasing their risk of cancer recurrence — could not be more important for breast cancer patients to know about.

So, what did the Subcommittee recommend? (more…)

Speaking of breast cancer - we’re on a roll this month! - there are very important happenings at the FDA next week. On October 18, the FDA will to evaluate recent research regarding 2D6 gene variants and response to the breast cancer drug, tamoxifen, and whether this research warrants any warnings or changes to the tamoxifen package insert.

Here’s a link to the FDA’s Executive Summary on Tamoxifen and 2D6. (Clicking this link will download a .PDF.)

In concert with the hearing, DNA Direct is launching our first drug metabolism test: 2D6 testing with personalized test results interpretation for tamoxifen. (Testing can be ordered online at the Genes&Drugs website.) Below is DNA Direct’s backgrounder, which explains the test, the research and why we’re offering 2D6 Tamoxifen testing to certain patient populations.

TAMOXIFEN & 2D6 BACKGROUNDER

Recent research on tamoxifen has shown that potentially up to 7-10% of women with breast cancer may not receive the full medical benefit from taking tamoxifen, because of their unique genetic make-up. These women have a special version of a gene (CYP2D6, commonly referred to as 2D6), which may reduce the effectiveness of tamoxifen and increase their chance of breast cancer recurrence. With over 500,000 women currently taking tamoxifen, this research has wide-reaching implications. (more…)

I’ve been looking for something other than breast cancer to talk about since I just posted on hereditary breast and ovarian cancer, because September was Ovarian Cancer Awareness Month…but I can’t avoid it. Everyone’s wearing pink ribbons and news about breast cancer abounds:

• A new breast cancer gene has been found: BRIP1.
• The White House issued an official proclamation by the President that October is National Breast Cancer Awareness Month.
• The FDA is meeting next week to discuss tamoxifen, a drug metabolism gene called CYP2D6, and their relationship in terms of risk for breast cancer recurrence.

Stay tuned for more info on the FDA hearing next week….

Technorati Tags: breast cancer, hereditary cancer, genes, brip1, tamoxifen, drug metabolism, breast cancer recurrence

Congratulations to our Medical Director, Dr. Kate Rauen, and her team of researchers. Their recent discovery of the genetic basis for cardio-facio-cutaneous (CFC) syndrome continues to receive attention from the medical community.

UCSF Today has an article (with great imaging) about the promise Kate’s research holds:

[u]nlike Down syndrome, many instances of developmental delay are due to small mutations in DNA. These small mutations often consist of no more than a single missing or substituted letter within the string of DNA alphabet building blocks that make up long sequences of genetic code.

(more…)

In July, the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) held a Celiac Disease Awareness Campaign to tell the public about this disease that affects an estimated 1 percent of all Americans. Lisa’s previous post gives a summary of the symptoms of celiac disease and coping strategies.

The main message is this: people with celiac disease exhibit an autoimmune response to gluten, which is a protein found in wheat, rye, and barley. There are both genetic and non-genetic (environmental) factors involved in acquiring celiac disease, evidenced by the fact that 70% of identical twins both have celiac disease (since the concordance is not 100%, it is known that there are environmental factors involved as well). According to some gastroenterologists, first-degree relatives of someone with celiac disease are recommended to get endomysial antibody blood tests. (more…)

The race is on: $10 million to the first team that develops the technology to sequence 100 genomes in 10 days.

Today the X Prize Foundation announced the $10M award, which is backed by a wealthy Canadian geologist. Writes Antonio Regalado in the Wall Street Journal,

As an encore, the winning team will be paid $1 million more to decode another 100 people’s genes, including a bevy of wealthy donors and celebrities. Already accepted for future decoding: Google Inc. co-founder Larry Page, Microsoft Corp. co-founder Paul G. Allen and former junk-bond king Michael Milken.

The idea behind the star-studded genome race is to drive public interest in DNA research and hasten the age of “personalized medicine,” in which drugs and diets may be tailored to an individual’s genes, says Peter Diamandis, the aerospace entrepreneur who founded the X Prize Foundation, based in Santa Monica, Calif.

I’m taking bets: now how long do you think it will take to reach the $1000 genome?

Technorati Tags: x prize, genomics, human genome, dna, personalized medicine, peter diamandis

Andrew Z. Fire of Stanford and Craig C. Mello of the University of Massachusettes Medical School wree awarded the Nobel Prize in medicine today. They discovered a process called RNA interference, which is a powerful way to “turn off” the effect of genes. Their discovery has opened the door for new ways to fight a wide range of diseases such as cancer, heart disease, hepatitis and AIDS.

The Nobel Prize website has a wonderful, illustrated explanation of why Fire and Mello’s discovery is so important: DNA - RNA - Protein

Read more about what the recipients and their colleagues are saying: (more…)