“… something borrowed, something blue!”

Nah, no one is getting married from Genetics and Health. But the quote is apt at describing the changes at this site in the next few weeks.

Genetics and Health has been a terrific place to get information on (almost) every topic covered by the fields of genetics, health and medicine. But I am so thrilled about the upbeat direction that the site is headed, because it will reach a wider base of readers, be more reader-friendly and you will love the new look!

Genetics can be intimidating (even I feel that way, believe me), and that’s what I want to change. At least I’ll try my best to. So we’ll have a weekly feature that explains genes in simpler terms. We’ll have fun with mini-quizzes and stuff that students can use. I’m interested in bringing in more stories from those who know family or have personal genetic conditions. Mine is a very strong family history of allergies. I absorb anything in the literature that help me understand it better and help my family manage our allergies. I am sure my stories can help someone else, and vice versa.

So anyway, these are some of the changes I have in mind. Do you have other things you want Genetics and Health to cover? I welcome suggestions!

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The day after Thanksgiving is the most important holiday before Christmas. It’s our signal to start shopping for holiday gifts!

But what do you give someone who is crazy about genetics?

Well, my friend, you came to the right store, if you need a gift for any of the following reasons:

• The holidays! What better way to say Merry XX-Mas! (or Merry XY-Mas!)
• Birthdays and anniversaries, graduate fellowships, employment, promotions, new discoveries, grant approval, postdoctoral work and all the major accomplishments in life!
• Something for your boss; your boss’ boss; your professor; your department head and all the important people who can sign your papers!
• Something for your laboratory head, technicians, the statisticians and programmers, and everyone who makes your life easier.
• Something for your classroom, art walls, bare walls, bathroom walls? and other walls you want jazzed up!
• and don’t forget YOU. You deserve to have the best.

Genetics and Health Showroom has everything most of what you want (shameless promotion) for gift ideas of all occasion.

For starters, your own DNA in Portrait. Yup, submit a cheek swab and DNA 11 will send you a printed canvas of your genetic material. Check out a sampling from the Gift Guide.

Happy Black Friday!

When I was young my mother would ask me to help her pollinate some of her prized orchids. She would name them ‘var X var’ and the new plant would be slightly different than the one it came from. Little did I know that I was being introduced to genetics.

When I got into high school Biology and fell in love with the Punnett square, the rest was history. I pursued Mendel and trained with the leading scientist /adviser in plant breeding in the Philippines, the same professor who trained my mother in college. It was exciting to study the chromosomes of ancient corn species, and later to find the genes that let rice adapt to flood-prone fields. But it was my love for medicine that brought me away from plants and my jade mountain.

I went 3000 miles away to the east coast, USA to study humans, their genes and diseases, and I concentrated on asthma and allergies, the immune diseases that plague my family. For some reason, my work was good enough to land me a job under one of the best minds in statistical genetics, where I worked on the genetics of myopia for five years. And now here I am at your service, blogging for genetics and health.

In my lifetime (and I’m not that old yet, mind you) there were a plenty of big shoes to fill. With Genetics and Health, two of these have to be Dr. Hsien-hsien Lei and Elaine Warburton. Hsien put this blog on Google and she understands genetics like she breathes it. Really she does. Elaine’s expertise and the vast community in genetics brought this blog into wider focus of health and medicine.

Two big shoes to fill. I hope someday they fit me.

If you’re here and visiting, I would love to hear from you. If you’re a student, I hope I can help with school. If you’re a current reader, welcome from the new writer. I hope you stay and exchange ideas with the rest of us. Feel free to share links, posts and news back and forth. There is so much to discover about “our genes, our lives” and the field is growing like never before, don’t you think?

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Knowing more about your risk of type 2 diabetes is just a keyboard click away at DNA Direct. Together with deCODE diagnostics, DNA Direct is now offering deCODE T2, a genetic test that examines the presence of the “T” allele of SNP rs7903146, located within the transcription factor 7-like 2 (TCF7L2) gene. Almost twice as many people with type 2 diabetes have two copies of the TCF7L2 gene variant. As far as I can tell, the SNP is not known to cause a functional change in the activity of the gene, but is associated with reduced insulin secretion.

Kari Stefansson, CEO of deCODE:

Understanding one’s risk of T2D is the first step toward enabling more effective prevention. The principal risk factors for T2D are well known - obesity, unhealthy diet and lack of exercise - and by addressing these individuals can reduce their risk of becoming diabetic. Family history, part of which involves genetic risk factors, also plays a part. deCODE T2(TM) offers a new tool to help individuals and their doctors bring an
understanding of inherited risk into the picture. deCODE T2(TM) is but the first of several DNA-based predisposition tests we have in development for common diseases. We believe that as individuals, doctors and healthcare providers begin to integrate these tests as a part of everyday healthcare - much as cholesterol screening has become a part of understanding and
reducing risk of heart disease - these tests may provide major benefit to public health

Given that type 2 diabetes is a multifactorial disease caused by many different genetic and lifestyle factors, having one genetic test done on one specific gene variant may not tell you much about your risk of type 2 diabetes. If you test positive, your risk of developing type 2 diabetes is twice as high as someone who does not have two copies of the TCF7L2 gene variant but your risk still depends on other risk factors such as weight, lifestyle habits, diet, and other genetic variants. In a clinical trial studying prediabetics, those who have two copies of the TCF7L2 gene variant of interest could reduce their risk of type 2 diabetes through weight loss. These individuals may also benefit from metformin to increase insulin response.

For the informed person, this type of limited genetic information can be empowering. But, please don’t be deluded into thinking that you’re not at risk if you test negative. It takes more than one $500 genetic test to develop a truly accurate health profile.

Biotech start-ups utilizing genetic information are nothing new. Could 23andMe be unique? Yesterday, I received a nice email from their recruiting manager, Oliver Ryan. As luck would have it, I’m vacationing in the San Francisco Bay Area and hope to swing a meeting with some 23andMe folks next week, including Anne Wojcicki and Linda Avey. If there’s anything you’d like to me to ask, email me or leave a comment here.

From the little information that’s available on their website, 23andMe sounds like one-stop shopping for personal genomic information.

23andMe is an early stage startup developing tools and producing content to help people make sense of their genetic information. Our goal is to take advantage of new genotyping technologies and help consumers explore their genetics, informed by cutting edge science.

Your annotated DNA on a USB portable hard drive could happen much sooner than any of us expect. What are your plans for all that genetic information? I might set mine to music.

The Genetic Genealogist has more about 23andMe.

Update: We’ve decided to keep the meeting off the record. I’m so sorry! When they’re ready to blast their publicity horn, though, you can bet I’ll be there to record it.

DNA is being collected from birth. In Minnesota, blood samples are collected from all newborns unless parents specifically request an exemption. But, these samples cannot be used for research or any other reason not related to disease testing unless the parents sign consent forms.

Genetic privacy advocates think that no blood samples should be taken at all unless parents “opt-in” but if people are not automatically included, screening rates are proven to be lower; Minnesota is opt-out and tests more than 99.5% of all newborns, Maryland is opt-in and tests less than 97%. Samples for research are still opt-in which may increase administrative costs and make it more difficult for studies to be conducted since fewer samples will be available.

The new rules will hopefully ensure that newborn blood samples will be destroyed after necessary disease screening is performed. That might work for now but once whole genome sequencing is readily available, destroying blood samples will be too late since DNA analysis can be performed so quickly.

Gabriel Castro said nurses and other caregivers at the maternity ward seemed baffled by his request to opt out of the screening for his baby girl this February. He worries about security. If credit card data can be stolen, he said, why not his daughter’s genetic information?

“It’s more valuable and precious to me than a credit card,” he said.

You can try protecting your daughter’s DNA now, Mr. Castro, but chances are none of us can keep our DNA safe for much longer. We may not even want to once personalized medicine is developed that allow us to use our genetic make-up to receive better medical care.

Earlier this week, the National Sleep Foundation reported that more than half of American women are suffering from sleep deprivation. These women are too tired to have a good work and personal life and are completely stressed out. (I’m sure many of us can identify!) And if they also happen to have the long version of the PER3 gene, they’d also have issues with cognitive function.

A small study of 24 people, half of whom carried two copies of the long version of PER3 and the other half with two copies of the short version, found that those with the long version performed poorly on cognitive function tests after being deprived of sleep for 24 hours. People with the long version of PER3 also spend more of their sleep time in deep sleep suggesting that they need more of this type of restorative sleep than others.

It’s estimated that 10% of people in the UK have two copies of the long version of PER3. They’re probably more susceptible to sleep deprivation and have trouble working odd hours. Worst of all, bad moods have a lot to do with how little sleep a person gets. So combined with the serotonin receptor 2C gene, mood swings are inevitable in our household.

New Scientist, March 8, 2007

Perfect timing yet again. Kim at Emergiblog is here today. She and I were both included in FOXNews.com’s best health blogs list. But unlike me, she got 30 comments congratulating her! That should tell you what a great person Kim is but this interview should convince you further.

1. A couple of months ago, I posted about Beatrice Vance at my heart disease blog, A Hearty Life. Ms. Vance had died in the waiting room of her local emergency department despite experiencing symptoms of a heart attack. Quite a heated discussion followed in the comments where various nurses weighed in. What’s your take on Beatrice Vance’s death and the way emergency rooms are generally run when patients come through the door?

It is easy for us to sit back and act as “arm chair quarterbacks” when the game is over and discuss what should have been done with all the visual acuity of hindsight.

This one is hard for me because I work in a facility that is well known for its cardiac care at all levels, from the ER on up. Someone comes in with chest pain and no matter what their sex or age, they are placed on a monitor and an EKG is done within five minutes. Every time.

I don’t know how Ms. Vance presented. Whether or not she presented with the “classic” symptoms is immaterial. You have to have a high index of suspicion in women. Was she downgraded in acuity because she was female? We don’t know. But I know for a fact that it happens because I felt that way when presenting with chest pain to my local ER last February. Female, age 48, hypertension and high cholesterol with strong family history for heart disease. The doctor said I had “no risk factors”.

So I know that there are cases where women are not taken as seriously as men when it comes to symptoms of a heart attack. Whether it happened here is hard to tell.

The chilling aspect of this for me is that the death was ruled a homicide. My humble dictionary calls it “the deliberate and unlawful killing of one person by another”. There is no way that this was a homicide. She died of a myocardial infarction. Was her death preventable? Maybe. maybe not. But you can hardly say it was a deliberate killing.

I’m sick that she died, though. And I’m sick that somewhere, somehow the system set up to catch patients such as Ms. Vance allowed her to slip through the cracks. No nurse reading this story feels anything but sorrow. It sure will keep any complacency from creeping into my practice, that’s for sure.

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Bioethics frustrates me. As much as I’d like to have a firm opinion on genetics issues, I find myself waffling more often than not. I understand both sides and while I know what I would do personally, I don’t have the confidence to tell others what to do. (Surprised?)

Fortunately, there are others who spend their time thinking about the thorny issues of genetic and other scientific advancements. Dr. Emilie Clemmens is a research fellow at the Women’s Bioethics Project. She has a PhD in bioengineering and has created the podcast series: The Scientist & The Ethicist.

1. You’re trained in bioengineering and human physiology. How did you become interested in bioethics?

Well, more generally, my interest in ethics in science grew from my experiences as a junior scientist. I think researchers face ethical questions related to their work everyday. It wasn’t easy for me to euthanize rabbits and rats in my research. I dreaded that—the tech and I called it the “bad karma day”. But I tried to remind myself of the goal: understanding cardiac and skeletal muscle function to help treat and cure human disease. So there’s an example of a balancing of ethics that many scientists face.

Maintaining the integrity of scientific research is a constant exercise in ethics. We rely on the objectivity of the data to move forward, but we need to recognize that human beings perform the studies. And I think we need to train young scientists to think about both the scientific and social consequences of their actions. I feel so strongly about this that I’ve left the “bench” to explore this important area of science.

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A new paper in Nature Reviews Genetics, entitled “Genetic Medicines: Treatment Strategies for Hereditary Disorders,” discusses potential genetic therapy for inherited diseases caused by a defect in one gene. (Not multifactorial diseases, such as cardiovascular disease, that are caused by a complex interaction of multiple genes and environmental factors.)

Genetic therapy techhniques discussed:

• Gene transfer using viral vectors, e.g., adenoviruses and retroviruses.
• RNA-modification therapies - suppressing or stimulating RNA that is the intermediate step between DNA and protein.
• Embryonic stem cells for regenerating organs, etc.

Dr. Timothy O’Connor, Assistant Research Professor of Genetic Medicine at Weill Cornell:

Remember, drug development is always a 10-to-15-year process, whatever the theory behind it. And just in the last decade we’ve seen enormous leaps forward, such as faster high-throughput screens, hapmap technologies and other advances. It’s our belief that even more astonishing advances are yet to come that will turn the dream of genetic medicine into a reality for patients at the bedside.

Not just at the bedside, but hopefully before. Preventive medicine is far more effective than medicine after people have fallen ill.

Medical News Today, April 3, 2006