How Human Are We?

Demon

In one of my favorite KISS songs, “Almost Human”, Gene Simmons sings “I’m almost human…..I’m almost a MAN”.

Gene Simmons has always been a bit of an oddity. Born Chaim Witz, he emigrated to the U.S. from Israel at age eight, learned to speak English and changed his name to Eugene Klein.  He later became a sixth grade teacher before winding up pounding the bass and wearing face paint as the Demon in KISS, a hard rock band . A master of marketing, Gene Simmons’ current net worth is 300 million dollars (according to celebritynetworth.com).

So it should come to no surprise to anyone, that after all these years, Gene Simmons was right about being almost human.

Yesterday I went to the Personalized Medicine 6.0 conference, and learned that we are only 10% human, at least in our cell to bacteria ratio.  Turns out we contain about 3 pounds of bacteria- cells are that are much smaller than our own. Bacteria cells outnumber ours 10 to 1. So we are 90% bacteria, 10% human.

But I also learned some useful information.  Cancer is now being looked at as a “chronic disease”, similar to HIV infection- something we will live with and manage medically.  Genomic Health’s Oncotype DX test has changed the way chemotherapy is prescribed, particularly in breast cancer, and soon for bone and prostate cancer. There is a combination drug cocktail coming out that targets Herceptin resistant cells…and allows women to keep their hair (Her3 target). Exciting times.

Personalized medicine is also being referred to as Precision Medicine (doctors take offense at Personalized Medicine as they feel they’ve been doing that for years).  It is likely that Precision Medicine will include our genome, a toxicity screen (which detects substances like DDT in the body) and metabolic assessment.  I believe this “Integrated Omics” approach will be the best way to treat multifactorial disorders like schizophrenia and obsessive-compulsive disorder.

One scientist suggested that by the end of the decade, getting your complete genome sequenced will cost $33. I’d take odds on this price within the next five years.  I just wonder how Gene Simmons is going to cash in on this.

Are we not men? Link to NY times article about bacteria:

http://www.nytimes.com/2012/06/14/health/human-microbiome-project-decodes-our-100-trillion-good-bacteria.html?pagewanted=all&_r=0

Advertisements

Genetic Link to Schizophrenia?

cnv2

Raising kids has got to be hard enough, but throw in some early warning signs of autism or schizophrenia…and parents are going to need backup.  As we saw with January Schofield’s situation, determining an appropriate diagnosis can be difficult, and can delay treatment and interventions.

In the future, it might be possible to include genetic testing in diagnosis of early onset neurodevelopment disorders.

A study published May 21st, 2013 reports a high rate of disease-related copy number variations in people with childhood onset schizophrenia, as compared to their healthy siblings. Copy number variations are increases or decreases in the number of chromosome material (typically humans have 2 copies of everything, a variation could be an extra chromosome, like number 21 in Down Syndrome, or an extra or missing section of a chromosome.) This study looks at 46 rare CNVs and shows a higher association of people with neurodevelopment disorders who have these CNVs versus their unaffected siblings who do not.

General populations studies are needed to determine the frequency of these CNVs. As testing pricing drops, studies like these become feasible.  Stay tuned.

Link to study:

http://www.nature.com/mp/journal/vaop/ncurrent/full/mp201359a.html

Schizophrenia? But she’s only six years old!

Image

Yesterday while walking down Irving Street to the bank, I saw a guy on the corner yelling at passing cars. My first thought was “oops, forgot to take his meds this morning.” In San Francisco it’s  commonplace to see people hallucinating, and usually I feel some empathy and move on. But with this guy I started wondering about his childhood, and when was he diagnosed,  probably because I recently read Michael Schofield’s book January First: A Child’s Descent into Madness and Her Father’s Struggle to Save Her.  Michael Schofield’s daughter, January, received a diagnosis of schizophrenia at age 6. This came about after many years of coping with her violent behavior and genius IQ.  While it is difficult to like Schofield (whose depression manifests in anger, directed at everyone but himself), the book is an interesting study of a family history of mental illness. It is also a disturbing report of how difficult it is to get help for children with psychiatric disorders. Schizophrenia is rare in children, affecting only about 1 in 40,000, compared to 1 in 100 in adults. (The average age of onset is 18 in men and 25 in women).  With the illness manifesting so early in this family, I would expect a strong genetic component.

In the book Schofield reports the following:

His mother suffered from hallucinations and once tried to stab Michael with a kitchen knife because she thought Michael was her father trying to rape her. She never received a diagnosis, but it sound like some kind of psychosis.

His first cousin once removed had a diagnosis of schizophrenia and committed suicide.

Michael was on Ritalin from five years old to thirteen. He currently takes Lexapro for depression.  He attempts suicide during the time frame of the book.

Susan(January’s mother)’s paternal great uncle had a diagnosis of schizophrenia and was hospitalized in Napa State Hospital.

So, the risk to Michael and Susan having a child with any mental illness was definitely increased over the general population risk. The risk of ADHD is very high, owing to Michael’s diagnosis. The risk of having a second child with schizophrenia is about 10%, possible higher because the onset was so young, especially in a female child.   The Schofields do have another child, a boy, who is diagnosed with autism.  Some of January’s symptoms fall in the autism spectrum range, which beg the question of whether she also has an extreme case of autism or perhaps a dual diagnosis.

I found this statement written by a mother on a support group page:

“Having a mental illness is terrible, but if it has to happen to someone, it’s probably best that if happen before age 18 when parents can still make healthcare decisions for the child. Too often, when adults are diagnosed with mental illness, they are too ill to make rational decisions, and their loving parents are legally prohibited from making decisions for them, so they don’t get good treatment right away. Some never get treatment at all. Our sons are fortunate to not be in that situation. If a child gets effective treatment and becomes accustomed to adhering to it while he’s a minor, maybe he will stick with it during adulthood and live a healthier, happier, more independent life. IMHO, that’s the silver lining of childhood diagnosis.”

The guy I saw on the corner was gone by the time I was heading back from the bank. Hopefully he got what he needed.

High cost of drugs getting you down?

Image

Did you know that there’s now an injectable form of Abilify that lasts for about a month?  Did you know that if you don’t have insurance it costs $1000 per injection?

Wow.

I went to the meeting of the San Francisco chapter of NAMI (National Alliance on Mental Illness) last night for a discussion about medication.  Dr. Ralph Fenn was on hand to answer questions and provide information.  He gave us two great websites to check out

This site compares costs of drugs so you can find the lowest price:

http://www.prescriptiondiscount123.com/check-discount-drug-cost

This site has programs that can assist if you need medication but can’t afford it:

http://www.needymeds.org/indices/pap.htm

For patient assistance programs you generally need to make less than $28,000 a year, which I know is hard to live on in San Francisco, but It doesn’t require that you be on MediCal or MediCare. Check it out.

On a genetic side note: I asked Dr. Fenn if he thought genetic testing for drug response was appropriate.  He agreed and said if he were the patient he would even consider paying out of pocket for it.

Photo:

© Alexey Lisovoy | Dreamstime Stock Photos

Artist. Addict. Afflicted.

van gogh

 

Virginia Woolf. Carrie Fisher. Sinead O’Connor. Linda Hamilton. Richard Dreyfus. Spaulding Grey. Ernest Hemingway. Peter Gabriel. Abbie Hoffman. Kurt Cobain. Russell Brand. Ray Davies.  Brian Wilson. All have/had bipolar disorder.

On Monday night Mike and I rode down to the Mission to attend BAASICS.3: The Deep End- a series of lectures and performances that explored the brain in terms of creativity, mental illness and coping with brain damage.

Dr. Ketter, the chief of the Stanford Bipolar Disorder Clinic, gave a presentation of his research that looks at creativity and mood disorders. He gave a series of personality tests, and temperament tests to a group of people with bipolar disorder, a group of people with major depressive disorder, a group of people unaffected by mood disorders and a group of creative people (fine art, creative writing and design students).  He found that the group with bipolar disorder and the creative group scored similarly in many areas, whereas there was no correlation between the MDD group and the healthy controls with the other two groups.  This could explain why so many creative people have bipolar disorder, or why so many bipolar people are creative.  I asked Dr. Ketter about using the results to work backwards to find out who might be at risk for bipolar disorder, but he expressed that creativity can occur without bipolar disorder so it would not distinguish between someone being at risk for the disorder, or at risk for creativity (heck, in some cultures being creative is just as stigmatized as having mental illness.)

Well, of course I’m always looking for that early intervention angle!!

Aside: Did you know that people with Bipolar 1 have a 61% lifetime prevalence of substance use disorders-more than twice that of people with MDD and 15% higher than people with schizophrenia? And a high suicide rate- approximately 30 times the rate of the general population. That warrants some early intervention.

Dr. Viskontas of Memory and Aging Clinic presented some info on her patients with Alzheimer’s and dementia- and how sometimes creativity emerges with the onset of disease.  She presented some artwork of her patients.  At the end of her talk she pointed out that as a society we are mainly concerned about what we will lose with aging.  We should keep in mind that there may be something to gain.  I like her optimism.  And she sings opera too.

 

 

BAASICS will put the entire talk on their website at some point. (It’s not there as of 5/9/2013) I encourage you to check it out:

http://www.baasics.com/videos/

Link to Dr. Ketter’s study:

http://www.ncbi.nlm.nih.gov/pubmed/20085848?dopt=Abstract&otool=stanford

Dr. Viskontas website:

http://www.indreviskontas.com/

 

“Don’t call it Meth!”

resize needles

Two years ago I gave a short presentation to a few genetic counseling students and medical genetics residents on the drug methadone and its effect on a developing fetus. (“Don’t call it meth” I told them, which seemed to be the one thing everyone remembered from my talk.) The info I found said it’s better for the fetus if an addicted mother stays on methadone during the entire pregnancy, rather than try to kick. This was based on theory. One of the residents found me after and said “those little babies addicted to opiates, they just cry and cry and cry. “ That’s all she said; she seemed pretty traumatized by the talk actually. When I saw her a year later, she was pregnant. She sure had balls -of course she’s not an addict, but still, after treating a baby who never stops crying- wouldn’t you run for the birth control pills?
I promised more good news, and here it is. A study published in JAMA on May 1st shows some evidence that variations in two genes, OPRM1 and COMT are related to the length of hospital stay and the need for treatment in opiate addicted babies.
Why is this important?
1) It shows a link between genotype and addiction- which may help explain why some people have a more difficult time with recovery than others.
2) It shows that these genes are active in early years. Some genes are turned on early and turn off at some point. It’s possible that the effects of different genotypes could vary as people age. This might be important in early intervention.
3) It may be possible to tell the mother the possible risk and severity of her baby withdrawing from prenatal exposure to narcotics.
4) It could help with treatment- drug development and early intervention cognitive behavior therapy and other types of therapy.
The link to the JAMA article is here:
http://jama.jamanetwork.com/article.aspx?articleid=1682942

photo: © Shannon Matteson | Dreamstime Stock Photos

“This society is set up to create Tenderloins”

ImageOur rehearsal space, Turk St. Studios, next door neighbors’ front door. The sign in the window is slightly cutoff- “All lives are worth saving.” Photo by me.

I didn’t start this blog to be a harbinger of doom and gloom.  There’s a lot of great work being done in genetics and healthcare, and this is meant to be a space to discuss how new information and technology can improve our lives.  However lately I know I’ve been a bit of a downer.  And here I go again-sorry, but I just have to share this powerful article by Mac McClelland.  It’s honest, well written, and from the point of view of a family member.  She admits her own struggle with empathy for her ill family members. She addresses the familial and societal cost of mental illness. Overall, I think the article emphasizes that there is no easy answer.  My optimistic self thinks a turning point might be sparked if we could get everyone to read this article (and I have a band rehearsal space in the Tenderloin, so I have to wonder if I’m a bit delusional too.)  One positive note is the statement that two to three thousand dollars in treatment saves $50,000 in jail. Let’s focus on that.

Link to McClelland’s article:

http://www.motherjones.com/politics/2013/04/mental-health-crisis-mac-mcclelland-cousin-murder?page=1

Mother Jones’s map of states that have cut treatment:

http://www.motherjones.com/mojo/2013/04/map-states-cut-treatment-for-mentally-ill

And to end on a positive note, here’s an article that discusses the Danish HIV “Cure” study:

http://health.usnews.com/health-news/news/articles/2013/04/29/hiv-cure-looks-promising-danish-scientists-contend