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

Advertisements

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