Bipolar case stirs debate about at-home genetics testing
The Associated Press Published Tuesday, March 25, 2008

http://www.newsminer.com/news/2008/mar/25/bipolar-case-stirs-debate-about–home-genetics-tes/

SAN DIEGO — Dr. John Kelsoe has spent his career trying to identify the biological roots of bipolar disorder. In December, he announced he had discovered several gene mutations closely tied to the disease, also known as manic depression.

Then Kelsoe, a prominent psychiatric geneticist at the University of California-San Diego, did something provocative for the buttoned-down world of academic medical research: He began selling bipolar genetic tests straight to the public over the Internet last month for $399.

His company, La Jolla-based Psynomics, joins a legion of startups racing to exploit the boom in research connecting genetic variations to a host of health conditions. More than 1,000 at-home gene tests have burst onto the market in the past few years.

The proliferation of these tests troubles many public health officials, medical ethicists and doctors. The tests receive almost no government oversight, even though many of them are being sold as tools for making serious medical decisions.

Health experts worry that many of these products are built on thin data and are preying on individuals’ deepest anxieties.

“People are always rushing to the market on the basis of one or two studies,” said Dr. Muin Khoury, director of the National Office of Public Health Genomics at the Centers for Disease Control and Prevention. “We have very little evidence that telling people their genetic information is going to make any difference.”

Tests have become available claiming to help predict and diagnose everything from serious illnesses like cancer and Alzheimer’s to athletic ability and a person’s ideal diet. Psynomics’ offering is one of the first psychiatric gene tests on the market.

Kelsoe, 52, acknowledges that bipolar disorder probably results from a combination of genetic factors and life experiences, and that the presence of these gene variations does not at all mean that someone will, in fact, develop the disease. He admits, too, that his findings about the genetic basis of the illness are far from complete.

But he said his test is a vital starting point toward moving away from the notoriously tricky practice of diagnosing bipolar disorder based purely on a person’s behavior.

“The goal of this is to try and help doctors make an accurate diagnosis more quickly so the patient can be treated appropriately,” Kelsoe said. “Anything is going to help, even if it just helps a little bit.”

Bipolar sufferers experience intense mood swings as they cycle between manic, sometimes delusional highs and depressive lows that can lead to suicide if untreated. The disease is often misdiagnosed as other forms of depression, which delays treatment and can result in the prescribing of antidepressants that make some patients’ symptoms worse.

To take the test, patients receive by mail a plastic cup that they spit into, seal and send back to Psynomics. The company analyzes DNA in the saliva.

Psynomics will send patients’ test results only to their doctors to avoid the risk of self-diagnosis.

The report that accompanies those results instructs doctors that a positive test means patients are two to three times more likely to have bipolar disorder. But the studies from which those figures come also show the gene variations themselves are rare even among those with bipolar.

The report also points out that for now, the test is valid only for whites of Northern European ancestry who show some behavioral symptoms and have at least one other bipolar family member.

Patients taking Psynomics’ bipolar test may feel branded by a positive result, even if they are not ultimately diagnosed with the disorder, said Hank Greely, a professor of law and genetics with the Stanford Center for Biomedical Ethics. Or they may feel false hope from a negative result, despite the company’s disclaimers.

Likewise, doctors have little training beyond what companies tell them when it comes to applying the test results. “They may make a foolish decision that backfires to put you on meds,” Greely said. “Or they may make a decision that backfires not to put you on meds.”

Unlike many tests for other conditions on the market, Psynomics does not claim its bipolar test can predict a person’s risk of developing the disorder later in life. It is meant to be used as a purely diagnostic tool for patients already showing symptoms.

That is an important distinction that makes the Psynomics test more responsible than others that promise a glimpse into the genetic crystal ball, according to Dr. Greg Feero, head of genomic health care at the National Human Genome Research Institute.

“Now you’re talking about an individual who has symptoms or signs that already put them in a very different risk category than someone who has no symptoms or signs,” Feero said.

Among hundreds of families Kelsoe has studied, one of the gene variations in the Psynomics test showed up in 1 percent of those unaffected by the disorder versus 3 percent who are affected. The other variation appeared in 7 percent of those without bipolar compared to 15 percent who have the disease.

Many other genes interacting with a patient’s environment contribute to the development of bipolar disorder, Kelsoe and other researchers believe, meaning no single genetic variation ultimately causes the disease. Researchers in Kelsoe’s lab are working to track down more genes.

“Why are we starting before it’s finished? You’ve got to start somewhere,” Kelsoe said. “Even if we knew everything about the genes, which we certainly don’t, it’s never going to be 100 percent predictive.”

Psynomics has sold only a few tests so far but is projecting sales of 1,800 tests in 2008 and 30,000 in the next five years.

In coming months, at least two other startups led by genetic researchers are set to release their own psychiatric genetic tests. One test claims to predict the risk of developing schizophrenia. The other is designed to forecast the likelihood that some medications for major depression could heighten suicidal thoughts in patients.

The American Psychiatric Association has yet to create an official policy on genetic testing. A fact sheet issued by the Federal Trade Commission advises consumers to be wary of assertions made by at-home genetic testing companies.

The Food and Drug Administration does not evaluate the tests for accuracy, though a panel is working on a set of standards for the growing industry.

For now, worry persists that with the proliferation of tests, there is too little understanding of what to do with the results, or what they mean.

“We just don’t know how people will use the information,” said Dr. Jinger Hoop, a professor of psychiatric genetics and medical ethics at the Medical College of Wisconsin in Milwaukee. “We don’t know whether it will be helpful to them in the long run.”

Implications for discrimination by insurers against mental health problem

(Article from Equilibrium website) http://www.bipolar-foundation.org/index.aspx?o=1354

This case revolves around the increasing and incontrovertible evidence from various areas of research that bipolar disorder is not ‘merely’ a ‘psychological disorder
It has reluctantly been accepted by individuals suffering from bipolar disorder (manic-depressive illness) and other mental health disorders that they face problems with regard to insurance of all types. Life insurance, personal income insurance and motor insurance are all affected by history of pre-existing ill health of any type but some policies specifically exclude cover for the de-novo development of ‘mental illness’ during the term of the policy, treating it differently from ‘physical disorders”, as well as imposing larger premiums or imposing other limitations on people with known mental health problems.

A court ruling on this issue in the US which is of considerable significance in this area has not been picked up at all by the popular media or the professional literature either within or outside of the US. Although not of direct legal impact outside of the US, we believe this case raises important issues about the way both employers and insurers deal with claims arising from the development of mental health problems. It also raises more general issues regarding differential stigma of ‘mental’ versus ‘physical’ ill health. This case revolves around the increasing and incontrovertible evidence from various areas of research that bipolar disorder is not ‘merely’ a ‘psychological disorder’.

The Case: Fitts v. Fannie Mae[1]
The ruling by the United States District Court for the District of Columbia involves an employee of a major mortgage company who developed bipolar disorder and whose employee disability insurance provider stopped paying disability benefits after 24 months on the grounds of bipolar disorder being a ‘mental illness’. The policy provided cover until the age of 65 for physical disability. Ms. Fitts had worked for the company for 13 years before she was first diagnosed with bipolar disorder in 1995. The employee- Ms. Jane Fitts, successfully brought a case against both the employer and the insurer arguing that bipolar disorder did not clearly fall in the category “mental, emotional or nervous diseases or disorders of any type”. The court awarded “prejudgment interest on all sums due her and the costs of this action “.

Three pieces of evidence were presented to back this argument, and two expert witnesses, including Miss. Fitts’ own psychiatrist, provided evidence:
1. Ms. Fitts’ father and brother showed symptoms of the disorder and so a hereditary predisposition coupled with having the disorder showed the genetic nature of the disorder, which must therefore have a physical basis.
2. Brain scans of Ms. Fitts showed excessive age-controlled atrophy of the left parietal lobe and abnormal wave activity on the left side of the brain.
3. Ms. Fitts suffered from physical symptoms such as headaches, chest pains, and insomnia that were ascribed to bipolar disorder.

Prof. Frederick T. Goodwin from the George Washington School of Medicine stated: “bipolar disorder is a physical illness because it is a neurobiological disorder that affects the physical and chemical structure of the brain”. He supported the claims listed above, also making the point that susceptibility to pharmacological therapy suggest a physical cause. Ms.Fitts’ psychiatrist maintained that while the clinical features of the disorder are mainly behavioural and emotional, they are due to physical changes in the brain.

Ms.Fitts’ psychiatrist maintained that while the clinical features of the disorder are mainly behavioural and emotional, they are due to physical changes in the brain.
The defence team argued that bipolar disorder clearly falls within the “mental illness” category because previous judgments had ruled it to be such on the manifestation of the symptoms and because it appears in DSM-IV.
This case was an appeal on a previous judgement against Ms. Fitts’s claim. The first filing of the suit focussed on violation of the Americans with Disabilities Act (ADA) and the District of Columbia Human Rights Act (DCHRA), and breached certain contractual and common law duties. This court dismissed all of Ms. Fitts’ claims except her Employment Retirement Income Security Act (ERISA) claim. ERISA requires all policies to be written in unambiguous language and given that bipolar disorder did not clearly fall within the definition of mental illness in the insurance policy, the court was bound by the doctrine of contra preferentem, which has been applied as federal common law to ERISA. The doctrine states that in ambiguous definitions the ruling should be against the drafter of the contract.

Other cases
Another case ongoing in North America illustrates the unfortunate consequences of stigmatisation of bipolar disorder leading to an understandable reluctance by those affected to openly disclose to employers a history of pre-existing mental illness. The Canadian insurers of the television series The Dead Zone filed a suit against star Anthony Michael Hall to recoup more than $612,000 for failure to disclose he suffered from bipolar disorder, AP reports. The suit claimed production of the series, shot in Vancouver, was halted from May to August 2001 when Hall was treated for “bipolar affective disorder depression with psychotic features” for which the production company submitted a claim and received money. The case is waiting to be heard at The Supreme Court of British Columbia. (Source: Vancouver Sun)

In a case in New York, which does not have parity legislation, a court ruled that a disability insurance policy is not discriminatory because it provided only 24 months of cover for disability due to unipolar depression, rather than cover to the age of 65 years as it would have done for disability due to physical injury. The appellant, a Charlene Polon, continued to suffer with unipolar depression and has not been able to claim disability allowance under her policy from 1996. The case was made under the Insurance Law, and the court ruled that the law only protected from discrimination “with regard to her eligibility for and access to insurance” and not within the terms of the policy[2]. This case demonstrates that many instances of discrimination continue to occur and that even the covering statutes are unclear

For the rest of the article, follow this link:http://www.bipolar-foundation.org/index.aspx?o=1354

This makes it very difficult to accept the fact that my children have been told that I am not capable of looking after them full time. If I don’t have this condition, then presumably I’m capable of looking after them. It would also clear my medical records enabling me to find work and drive without all the scrutiny that I am currently subjected to.

So, I’ve been doing some research about whether there are other tests available to prove or disprove the presence of any Bipolar condition that I may have. If I do have it, then it may indicate the severity or mildness of it. If I don’t have it, them I’m off back to court to challenge the decision.

The following paragraphs are based on various articles that I have read but I haven’t attributed them as they were wrong in places so I have edited them eg they state that “all Bipolar sufferers have extreme and severe mood shifts from mania to depression.” As you and I all know, that is simply not true for all of us sufferers who experience a very individual set of symptoms. Anyway, do read on….

Bipolar Disorder and the Brain

Bipolar disorder and the shifts in mood that come with it can ruin lives. It often goes unrecognized as an illness and people can suffer for years before it’s properly diagnosed and treated. Now, however, new research that analyzes the bipolar brain could lead to better diagnostic techniques and improved treatment. Recently researchers discovered that abnormalities in certain brain areas that govern emotion can occur in those with the ailment. These findings and others may eventually provide researchers with new tools to diagnose and treat the ailment earlier and more effectively.

More than 2 million Americans and around 1 million Britons have bipolar disorder and the shifts in mood that come with it. Those with the illness in its most severe form (Bipolar 1) can cycle between episodes of manic highs and severe depression that can damage relationships and job or school performance. Those with the less severe form (Bipolar 2) have fewer marked mood shifts but they too can benefit from treatment.

People with bipolar disorder can suffer for years before their illness is properly diagnosed and treated. This may soon change, however, thanks to new research that analyzes the bipolar brain. The findings are leading to a better understanding of the cause of bipolar disorder.The development of biology-based diagnostic techniques that could identify the disorder early and provide insights into how to improve treatment.Currently, bipolar disorder cannot be identified biologically with a simple blood test or brain scan. Instead, a diagnosis is made primarily on the basis of symptoms discussed in the doctor’s office. The disorder often goes unrecognized as an illness for years, but once diagnosed many people with bipolar disorder can be treated with medication. Commonly doctors prescribe drugs that stabilize mood, such as lithium, along with drugs that ease depression.To help speed detection and improve treatment, scientists recently began to scrutinize the bipolar brain and uncover biological signs of the disorder. Some research reveals abnormalities in areas that govern emotions. For example, techniques that imaged the brain indicated that emotional areas deep inside, known as the amygdala and hippocampus, can be smaller in both adolescents and adults with bipolar disorder. This suggests that brain changes are an early feature of the disorder. Other studies that examined brain anatomy and brain activity indicate that those with bipolar disorder can have abnormalities in areas toward the front of the brain that process emotions, including the orbitofrontal cortex and the anterior cingulate. In other work, researchers uncovered some early insight into the roots of these abnormalities by studying genes. Our genes guide the production of proteins that run brain development and function. One study found evidence that a variation of gene, known as BDNF, which produces a factor involved in the development of brain structures like the ones found to be abnormal in bipolar disorder, may increase a person’s risk of developing the illness. Researchers also are examining possible links to many other genes involved in cell survival and development. With continued study, this research may help scientists find ways to detect bipolar disorder earlier and intervene earlier. For example, researchers imagine that in the future they will be able to develop a simple brain scan that identifies suspect brain alterations or devise a blood test that signals that brain changes exist. And perhaps once the genes behind the disorder are clarified, a test could be developed to detect them early.The discoveries surrounding the biological contributors of bipolar disorder also highlight where to focus new treatment development and could help doctors modify existing therapy regimens to match an individual’s particular abnormality. In the end, the research may translate into more peaceful days and longer lives for many.

Research reveals that people with bipolar disorder can harbor abnormalities in brain areas that govern emotions, including the orbitofrontal cortex, which lies behind the eyes and aids complex emotional thinking. In one imaging study, researchers examined brain activity while people with bipolar disorder and healthy individuals conducted a task that tests thinking ability. In general, the activity in the area was abnormal in bipolar patients compared to the healthy participants. Researchers also found that when patients were experiencing depression the activity was abnormally high, shown by the yellow and red coloring at the top of the left brain image. When patients were experiencing manic highs the activity was abnormally low, shown by the blue and purple coloring in the right brain image.