How Should Developments In Genetics Affect How Doctors Treat Patients?

QUESTION: It is our first baby, and my husband and I are spending this time
in reading everything about babies and the genes we provided to its
development. We think this is a fascinating subject. Now we would like to
know if all the recent developments in the field of genetics have changed the
way doctors treat patients?
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ANSWER: That's a loaded question. The science of genetics is relatively new,
but genetic screening is moving so rapidly that some experts predict that
there'll be a test for any gene within the next five years. A simple
definition of genetics would be the science of inheritance and the study of
inherited diseases. Because the technology of genetics is advancing so
quickly, scientists working in the field say doctors cannot keep up with the
advances. Doctors that are keeping pace are being confronted with many new
legal, social, and moral questions related to genetics. Who should be
screened? Is confidentiality guaranteed? If a disease that will occur in the
future is detected, how will this affect the person's whole outlook on life,
his or her employment and health insurance? Are doctors prepared to properly
counsel those with a grim diagnosis so many years in advance? What is the
point of screening for a disease for which there is no treatment? As the
number of prenatal tests grow, how will this affect decisions to abort? You
see, the questions multiply as the number of diseases that can be tested for
increases.
Just a few of the prenatal genetic tests widely available today are for
forms of cystic fibrosis, muscular dystrophy, hemophilias, thalassemias,
sickle cell disease, and phenylketonuria.
Scientists have learned to track the inheritance of disease from one
generation to the next by finding genetic markers. Each marker defines a
specific site on the human chromosome where a variation in the DNA sequence
occurs. If the marker is located close to a disease-causing gene, the
inheritance of the marker may predict the passing on of the gene from parent
to child.
One of the biggest problems with the science of genetics is that tests
are being developed for diseases well before cures and treatments are found.
For example, the genetic test for Huntington's disease is 95 percent accurate.
Having the test can let someone known decades before they are likely to come
down with the disease that this fatal ailment lies in their future. Doctors
at Boston General Hospital doing the testing for Huntington's are being
careful to only screen people with stable personal situations who have not
been coerced into participation, since the knowledge that the effects of this
neurological disease lie just down the road is not easy to accept.
Many geneticists say their tests are moving from the laboratory stage to
the clinic very slowly because the tests are very tricky, and primary care
physicians are hesitant to discuss them with patients. The screens are
becoming more reliable though, and are covering a wide range of diseases.
Therefore, some geneticists believe it's only a matter of time before the
tests become so routine that doctors who don't perform them will be open to
lawsuits from patients who feel they were improperly informed. Of course the
next important development to look for is the ability to treat or change the
genetic makeup of an individual, to prevent the evolution of the disease.
This too, will pose many ethical and moral questions for medical
practitioners.