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Inherited Health: Building Family Medical Histories

More than a year ago I wrote about AccessDNA, which now changed focus and became Inherited Health. Jordanna Joaquina, M.S., C.G.C., Director of Genetics and Co-Founder of Inherited Health, shared what kind of changes they implemented into the site:

— We have created an easy-to-use and secure tool that allows people and their biological relatives to collectively create and update their family health history together.

— We then analyze the family history information to create a personal health guide, which identifies hereditary disease risks and provide actionable guidance about how to lower these risks for each family member.

— We also provide a summary of the family health history that can be printed and shared with doctors and helps avoid repeatedly filling out health history forms at doctors office and improves the accuracy of the information provided because of collaborative family effort.

Click HERE to see an image of a whole health report, with all the details and disease risks.

*This blog post was originally published at ScienceRoll*

ADHD: Is It Genetic?

British scientists announced that attention-deficit/hyperactivity disorder (ADHD) has been linked to deleted or duplicated DNA segments (copy number variants), which leads to developmental difference in the brains of children with the condition.

Researchers scanned genomes of 366 children with ADHD and compared them with 1,047 unrelated, ethnically matched control subjects. They reported full results in The Lancet.

Rare copy number variants were almost twice as common in children with ADHD compared to the other children. Researchers commented to Reuters that there was a significant overlap between copy number variants found in ADHD and elements of the genome linked to autism and schizophrenia, specifically in a region on chromosome 16.

*This blog post was originally published at ACP Internist*

The “DNA Dilemma”

Mary Carmichael of Newsweek had a great series of articles focusing on direct-to-consumer genetic testing. An excerpt:

I’ve been following DTC genetics since 2007, when wide scanning first became available to the public. Since then, a number of writers have gotten wide-scale genetic tests and expounded on the results. Indeed, I sometimes wonder if I’m the last science reporter on earth with virgin genes. (Technical virgin: My doctor gave me a cystic fibrosis carrier test when I was pregnant.) Initially, I put off getting a full-genome scan because I wasn’t sure how useful such a test would be. I had no particular reason to take one, save curiosity. I wouldn’t expect to find anything serious and potentially life-altering like the Huntington’s disease gene in my results, because my family medical history is thankfully rather boring. The data most likely to be medically relevant to me would concern the genetics of common diseases, and at the time, many comprehensive and well-designed studies of those were still getting underway. I decided to wait a few years and see how research progressed. But here I am, three years later, still unsure.

*This blog post was originally published at ScienceRoll*

Schizophrenia Caused By The Cat?

CatFrom the front page of [the August 1st] Baltimore Sun: Researchers Explore Link Between Schizophrenia, Cat Parasite. Frank D. Roylance writes:

Johns Hopkins University scientists trying to determine why people develop serious mental illness are focusing on an unlikely factor: a common parasite spread by cats. The researchers say the microbes, called Toxoplasma gondii, invade the human brain and appear to upset its chemistry — creating, in some people, the psychotic behaviors recognized as schizophrenia. If tackling the parasite can help solve the mystery of schizophrenia, “it’s a pretty good opportunity … to relieve a pretty large burden of disease,” said Dr. Robert H. Yolken, director of developmental neurobiology at the Johns Hopkins Children’s Center. Read more »

*This blog post was originally published at Shrink Rap*

Social Drinking: Is It In Your Genes?

Psychological Science, a journal of the Association for Psychological Science, published a very interesting paper focusing on the genetic background of social drinking. Specific gene variants might increase the risk for extensive alcohol use or abuse when spending time with heavy-drinking peers. An excerpt from Medical News Today:

Drinking alcohol increases levels of dopamine –- a brain chemical that causes pleasure and makes us feel good. The dopamine D4 receptor gene (DRD4) has been shown to be involved in motivation of seeking out rewards. Research has suggested that carrying a specific form (or variant) of this gene –- one that includes seven or more repeats of a certain section of the gene –- may be associated with craving caused by alcohol-related cues. Psychological scientist Helle Larsen from Radboud University in The Netherlands and her colleagues wanted to investigate if this 7-repeat gene variant plays a role in how an individual responds to alcohol-related cues.

The results showed an effect between how much the confederate drank and the gene variant on volunteers’ alcohol consumption: When the confederate was seen consuming three or four drinks, carriers of the 7-repeat form of the gene drank more than twice as many glasses of alcohol than did noncarriers of the gene variant. However, when the confederate consumed only one drink, there was no difference in alcohol consumption between carriers and noncarriers. These findings suggest that individuals carrying this form of the DRD4 gene may be more sensitive than noncarriers to other people’s drinking behavior.

*This blog post was originally published at ScienceRoll*

Latest Interviews

IDEA Labs: Medical Students Take The Lead In Healthcare Innovation

It’s no secret that doctors are disappointed with the way that the U.S. healthcare system is evolving. Most feel helpless about improving their work conditions or solving technical problems in patient care. Fortunately one young medical student was undeterred by the mountain of disappointment carried by his senior clinician mentors…

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How To Be A Successful Patient: Young Doctors Offer Some Advice

I am proud to be a part of the American Resident Project an initiative that promotes the writing of medical students residents and new physicians as they explore ideas for transforming American health care delivery. I recently had the opportunity to interview three of the writing fellows about how to…

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Latest Book Reviews

Book Review: Is Empathy Learned By Faking It Till It’s Real?

I m often asked to do book reviews on my blog and I rarely agree to them. This is because it takes me a long time to read a book and then if I don t enjoy it I figure the author would rather me remain silent than publish my…

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The Spirit Of The Place: Samuel Shem’s New Book May Depress You

When I was in medical school I read Samuel Shem s House Of God as a right of passage. At the time I found it to be a cynical yet eerily accurate portrayal of the underbelly of academic medicine. I gained comfort from its gallows humor and it made me…

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Eat To Save Your Life: Another Half-True Diet Book

I am hesitant to review diet books because they are so often a tangled mess of fact and fiction. Teasing out their truth from falsehood is about as exhausting as delousing a long-haired elementary school student. However after being approached by the authors’ PR agency with the promise of a…

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