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OSTEOPOROSIS
It is estimated that about 25 million Americans have osteoporosis, a disease in which bones lose calcium and hence their strength - it is a "thinning of the bones". This disease often starts with no pain or other symptoms. It leads to loss of height, spinal deformities, bone fragility and as a result, an increased risk for fractures. It is estimated that 15 million fractures in the U.S. each year are due to osteoporosis. Yet there is now evidence that this disease can be diagnosed early, and prevented, or at least lessened. Although most patients are women, men can also suffer from some degree of osteoporosis.
There are several methods of treating osteoporosis, including increasing calcium intake, exercise, hormone (estrogen/progesterone) replacement therapy in postmenopausal women, testosterone therapy for certain men, and calcitonin. There are some experimental drugs being studied at this time, but they have not yet been approved by the FDA.
For women with EPP, hormone replacement therapy (HRT) can be used, if you feel that the benefits outweigh the risks, according to our liver consultant Dr. Joseph Bloomer. The risk is that these hormones may impair protoporphyrin excretion from the liver and thus can lead to liver problems (the reason that EPP people are discouraged from taking birth-control pills). If you do decide to take HRT, it is crucial to follow closely your protoporphyrin levels and your liver chemistry blood tests (at least twice a year). If there is any increase in either liver chemistry or protoporphyrin levels, HRT should be stopped immediately. Each case must be judged on an individual basis, so do discuss this with your personal physician. For men, osteoporosis is sometimes treated by giving testosterone - this hormone also affects the liver in the same was that estrogen does, thus the same cautions apply.
APPLYING THICK SUNSCREENS AND OTHER MEDICATIONS TO SKIN
This chart (reprinted from "M.D. Alert Tips - Health Tips for Patients") gives you tips on the amounts of creams and ointments to apply to different areas of your body. These directions will not work for liquid sunscreens, but should work for the thicker products. For sunscreens, try these dose recommendations to start. If they are not enough, increase by 1 "FTU" until you find a satisfactory amount. By using this standard dose, you can apply your sunscreen in a reproducible fashion each time you use it, to give yourself the best protection possible.
How Much Ointment Is enough?
Reprinted from "M.D./alert Tips - Health Tips for Patients
Now there's a safe, practical and easy way to apply the right amount of creams, ointments, and other skin medications. The correct amount is measured in 'Fingertip Units' (FTUs). It's easy, it saves time - and it ensures an accurate application of medication. Here's How It Works:
- Open the tube of medication.
- Extend your index finger facing up.
- Squeeze out a line of medication from the tip of your finger to the first skin crease. This is one Fingertip Unit (see drawing of finger below).
- Apply the medication to the affected area.
The figure of the body (see below) shows the number of FTUs required for different areas of the body.
For more information about applying skin medication...ask your doctor!
TWO ARTICLES ON DISCRIMINATION AGAINST PEOPLE WITH GENETIC DISEASES
The issue of genetic discrimination against people with rare diseases is a serious problem. Luckily, people are beginning to realize this and the government is beginning to take steps to protect people with genetic diseases against discrimination in the workplace. Two articles on this subject are reprinted here.
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This article is reprinted from the journal, "Nature Medicine', Volume 1, no. 5, May, 1995.
Genes and Discrimination
By Barbara Culliton
No one talks about the sense of excitement and hope that accompanies the steady progress in human genetics without mentioning in the same breath the notion than molecular genetics poses unique ethical issues. Medicine's ability to identify in healthy people genes that may predispose them to future disease is often regarded as one of the most perplexing "ethical" questions. Will employers and insurance companies discriminate against people known to carry a gene associated with cancer, or neeuro-degenerative disease, or heart failure?
The answer, regrettably, is yes. Although data on the full scope of genetic discrimination are slight, there is no doubt that it happens. People have been denied employment because a relative has Huntington's disease, for instance. And there is evidence that people have refused potentially valuable genetic screening for fear of discrimination should they have a gene that predisposes them to cancer, or cystic fibrosis, or heart disease.
Insurance companies routinely deny coverage to people with "pre-existing conditions"; employers prefer not to hire people who are likely to run up large medical bills. Insurance companies after all are businesses, not public charities. It is no surprise that they discriminate against the sick or potentially sick whenever possible. This being so, medicine's ability to identify increasing numbers of disease genes has, among its adverse side effects, the fact that genetic information can be bad for chances of getting employment or insurance.
But the solution to what is posed as a complex ethical issue lies not in the realm of ethical analysis but in the practical world of law and public policy. And on 14 March, in the United States, an agency with the authority to affect the real world issued a decision that is good for people and good for the future of genetic research. The US Equal Employment Opportunities Commission declared that under the Americans with Disabilities Act (1990), a genetic susceptibility to disease is a protected disability within the meaning of the law. The example given is marvelously clear. It should give heart to people who otherwise fear genetic testing, encourage scientists to push ahead with research, and give fair warning to employers and insurers that their license to discriminate may soon expire.
-- This is the EEOC's example of prohibited discrimination based on a person's status as the carrier of a disease-related gene:. --
-- CP's genetic profile reveals an increased susceptibility to colon cancer. CP is currently asymptomatic and may never in fact develop colon cancer. After making CP a conditional offer of employment, R [employer] learns about CP's increased susceptibility to colon cancer. R then withdraws the job offer because of concerns about matters such as CP's productivity, insurance costs, and attendance. --
According to the EEOC's interpretation of the disabilities law, R is in deep trouble, vulnerable to a legal suit for genetic discrimination. (In fact, R would be vulnerable under the Americans with Disabilities Act even if CP actually did have colon cancer.)
The EEOC's decision to define a person's genetic status as a disability under certain conditions is an important first step in eliminating the inherently distasteful practice of allowing insurance companies to selectively insure the healthy among us and screen out the rest. Although insurance companies are not bound by the disabilities act, employers are. One does not have to stretch the imagination to assume that employers, who have considerable power in negotiating health care policies for their workers, will negotiate policies that include coverage without regard to a person's genetic profile.
It is morally the right thing to do. Equally important, it is also the only practical thing to do. In light of the extraordinary advances in human genetics, it will not be long before it is possible to show that nearly every single one of us carries one or another disease gene. True, there is much research still to be done before we can effectively treat the diseases we can now link to certain genes, but the trend is unambiguous and the scope of gene-related diseases is vast.
Two examples were reported in the April issue of "Nature Medicine". Alcoholics may have a mutation in the receptor genes for serotonin that influences addiction. Individuals who survive a decade or more after infection by the AIDS virus may carry a protective mutation in the receptors of their CD4+ immune cells. Significant progress in understanding the genetics of non-insulin-dependent diabetes (which afflicts 5 per cent of the world's population) was reported in the March issue of "Nature Genetics". The list of diseases with a known genetic component would fill pages. Beyond doubt the range of genetic permutations in the human population is so vast (and so susceptible to medical understanding) that it is silly to assume any (or many) of us are born with a perfect genetic profile. It would be tragic if genetic discrimination in the workplace or insurance market were to deter people from participating in clinical studies or cause scientists to shy away from this vital research.
The EEOC commissioners seem to understand this. They should be commended for their foresight, and their bureaucratic amendment to the EEOC's compliance manual (known charmingly as directives transmittal number 915.002) is one of the few such documents that deserves to be read.
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This article is reprinted from the Washington Post, April 7, 1995, page A3.
Gene Discrimination Barred in Workplace
EEOC Says Jobs Can't Be Denied Based on Predisposition to Disease.
By Rick Weiss
The U.S. Equal Employment Opportunity Commission has concluded that healthy people carrying abnormal genes are protected against employment discrimination by the Americans with Disabilities Act. The commission's finding, released quietly last month as part of a larger document clarifying the definition of "disability" under the ADA, has potentially enormous implications. It is the first federal document to declare that it is illegal for an employer to discriminate against a worker on the basis of his or her genetic makeup.
The EEOC interpretation has yet to be tested in court and does not address the question of whether insurance companies may deny health insurance to people with abnormal genes. But experts said the EEOC's interpretation of the law is likely to make people more willing to take advantage of a growing array of new genetic tests that can identify vulnerability to specific diseases, sometimes allowing more effective prevention or treatment. Many patients are reluctant to undergo such tests because of fear that the results will be used against them.
"This solves a huge dilemma that's been sitting there without an obvious solution," said Francis S. Collins, director of the federal Center for Human Genome Research, which oversees the ongoing U.S. effort to identify every gene in the human body and to address ethical and social issues related to the testing for such genes. "This is wonderful news for the American public." Paul Steven Miller, one of the five EEOC commissioners, said that the bipartisan commission's unanimous decision to include genetic discrimination under the terms of the ADA did not amount to a new rule but was an interpretation of the law that had never been clearly spelled out before. The law on genetic discrimination should be clear, he said: "It is illegal."
Some doctors are offering genetic tests to predict people's risks of developing certain diseases - including heart disease, Alzheimer's disease and certain cancers - and to help parents predict their chances of passing disease genes to their children. Although often inexact, providing relative odds rather than certainties, the tests can help people make medical and lifestyle decisions that in some cases may prevent or delay the onset of disease. But bad news on such tests might also persuade a potential employer to hire someone else or might inspire an employer to fire a worker preemptively to avoid the possibility of lost work days or higher employer-paid health insurance premiums. "We know there are many people at risk of genetic disorders who refuse to be tested because they are afraid of losing their jobs," said Mark Rothstein, director of the Health Law and Policy Institute at the University of Houston. "This says that fear will perhaps be dissipated because there is legal protection."
No one knows how often genetic discrimination occurs, and no cases have been tried in federal court under the terms of the ADA, the far-reaching worker protection law passed by Congress in 1990. But doctors report hearing of a growing number of incidents of such discrimination, and some cases are making their way through state courts, said Paul R. Billings, a professor of medicine at Stanford University who tracks the issue.
In one recent occurrence, a New England woman in her twenties was fired from her job in a pharmacy when her boss discovered that the woman's mother had Huntington's disease, an incurable neurological disease that starts in mid-life. Children of Huntington's have a 50 percent chance of inheriting the deadly gene and eventually developing the disease themselves. The employer told the woman she was laid off because business was down, but he almost immediately hired someone else to take her place, said Richard Myers, a medical geneticist and professor of neurology at Boston University School of Medicine who is familiar with the case. Adding to her troubles, the woman decided to get a blood test in the hope of proving that she had not inherited the gene. But the test came back positive, Myers said, and now the woman is too distraught about her medical fate to consider fighting for her legal rights.
In a similar but hypothetical example described in the EEOC document, an employer makes a conditional offer of employment and then learns that the candidate harbors a gene that increases her risk of colon cancer. Although the woman is healthy and may never get cancer, the offer is withdrawn because of concerns about future productivity and insurance costs. Such a woman would be covered under the anti-discrimination protections of the ADA, the document states.
Lawyers and scientists familiar with the EEOC document said that, considering the current mood in Congress, they were not surprised that the agency's conclusion was buried within a longer technical document about kinds of disabilities and was quietly circulated without public announcement. A March 15 EEOC press release highlighted the part of the document concluding that people engaging in illegal use of drugs are not eligible for protection under the ADA. But the release made no mention of the section dealing with genetic testing. Several people familiar with the report said the agency also was concerned that its wording might be misinterpreted to suggest that, since everyone has at least a few mutant genes (most of no medical consequence), everyone can be considered disabled - a definition so broad as to make the law meaningless.
But the EEOC wording is actually highly specific, said Bob Silverstein, who served as chief counsel for Sen. Tom Harkin (D-lowa), the chief sponsor of the act, and who is minority staff director for the sub-committee on disability policy. To quality under the terms of the ADA, he said, people must show not only that they have a genetic defect but also that they were "regarded as disabled" by an employer and discriminated against because of that perception. "You can see why this sort of thing is necessary," he said. "A lot of people could say, 'You look funny, your hair is short, you must have cancer.' And if you don't have cancer, then what?"
Even with workplace protections in place, people may not want to bare their DNA profiles to the world just yet. Most important, said Rothstein of the University of Houston, insurance companies still can deny coverage to people with 'preexisting conditions,' a term he said is becoming uselessly broad as doctors perfect the art of genetic augury. "Insurance is a method of risk-sharing against the unknown, and the more the unknown becomes knowable in advance, the less the current system makes sense," Rothstein said. "We need to think of ways of restructuring our insurance system, not just health [insurance] but all sorts of insurance, to accommodate this ability to predict future risks."
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