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Editorial NOVEMBER
2008
Be Careful What You Wish For…
Lee P. Shulman, MD
The ongoing incorporation of information from the Human Genome Project and
other research sources into clinical health care provides an amazing variety
of diagnostic and therapeutic advancements. From the use of pharmacogenetics
in the development of more effective therapies to the expansion of screening
algorithms for a variety of fetal and adult conditions, genetic and genomic
information is revolutionizing our approach to preventive and interventional
care.
So let’s keep it coming, right? Well, not so fast. We are quickly approaching
a crisis in women’s health care precipitated by this veritable avalanche
of technological advances. Our expanding list of fetal conditions amenable
to prenatal screening and diagnosis has overloaded our system’s ability
to provide effective counseling to those women appropriate for
or considering screening and diagnosis. The reason for this is multifactorial:
too few genetic counselors, too many conditions, the increasing complexity
of the conditions and their diagnostic processes, and, most importantly, a
system that is unable to provide meaningful counseling to the expanding number
of patients and disorders.
Genetic counseling initially provided counseling to a small number of patients
with definable risks for chromosome and Mendelian disorders, usually as result
of maternal age or a family history of a Mendelian disorder. Counseling was
provided to discuss the risk of affected future offspring and family members,
usually within the context of Bayesian analysis, a mathematical algorithm which
was essentially the only screening tool available for couples at risk for Mendelian
disorders. These counseling sessions also included assessment of other risk
factors, and were followed with a detailed letter to patient and referring
clinician, along with an open invitation for further counseling should questions
or concerns arise in the future.
Much in the same way that the old television show Father Knows Best is not
representative of current life in the United States, this paradigm has no relevance
for current clinical care. Screening and
diagnostic options have greatly expanded and more women are now considered
to be at increased risk for fetal abnormalities than ever before. From the
variety of Down syndrome screening protocols, to Jewish genetic disorder screening,
to thalassemia and cystic fibrosis, the options for women seeking pregnancy
counseling have never been greater, or more confusing.
And there is no sign of the
process slowing. Technological advances such as microarray assays are already
expanding the number of conditions amenable to screening and diagnosis. Expert
medical panels of geneticists, obstetric, and pediatric care providers are
considering the incorporation of more genetic disorders into screening panels;
indeed, we at Northwestern
have recently initiated the offering of screening for spinal muscular atrophy
(SMA) to all pregnant and preconception patients in the Section of Reproductive
Genetics. Spinal muscular atrophy is the most common cause of infant mortality
in the United States, and yet, because SMA is usually diagnosed by pediatricians
(and not obstetricians), it is largely unrecognized in the obstetric community.
I would encourage all of you
to explore a 1994 article in The New England Journal of Medicine authored by
Sherman Elias and George Annas.1 They accurately predicted this morass and
suggested that we develop a more user-friendly approach to genetic testing,
one more in line with a physical examination rather than a masters or doctoral
dissertation. We must look to a more facile approach to providing genetic information
to our patients; by not doing so, the Human Genome Project promise of improving
the health and well being of people throughout the world will be denied not
by our inability to delineate the genetic and epigenetic phenomena intrinsic
to pathophysiological processes and therapeutic interventions, but rather by
our inability to properly incorporate them into the care of our patients. We
have long sought this information—let us not have it at hand and be unable
to use it.
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Lee P. Shulman, MD, Board Member
REFERENCES
- Elias S, Annas GJ. Generic consent
for genetic screening. N Engl J Med. 1994;330(22):1611-1613.
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