Providers aren’t keeping up with genetic medicine
Resources being developed to bridge knowledge gap
As controversies over fetal tissue research, cloning, and stem cells grab the headlines, other applications of genetic research are quietly making their way into clinical practice. But many health care providers aren’t ready for them.
"What we hear most often when we go to talk to health care professionals about genetics is, OK, we know it’s coming, we know it’s important, but stop telling me what it’s going to be doing for me five years from now. Tell me what I need to know now,’" says Joseph McInerney, director of the National Coalition for Health Professional Education in Genetics (NCHPEG) in Luthersville, MD.
According to McInerney, they need to know a lot but most haven’t been able to wade through the massive amounts of confusing and conflicting information to glean portions relevant to their practice.
NCHPEG, which is made up of 125 separate medical professional organizations and societies, is hoping to change that by offering resources for physicians and other health care professionals to guide them in becoming more gene literate.
Two years ago, they developed a set of core competencies in genetics that health care professionals should be able to meet. Now, they are offering guidance on taking an appropriate family history and establishing a clearinghouse of web sites that provide comprehensive, correct information on genetics and medicine.
"Most health care professionals are not very well informed about genetics in general, particularly about genetic testing and technologies. For most professionals, they have mentally walled off genetics into this separate, kind of abstruse discipline," he says. "The reality is, it’s not just that genetic medicine is on the horizon. It’s already here in a number of areas."
This year, the American College of Obstetricians and Gynecologists (ACOG) and the American College of Medical Genetics (ACMG) released new guidelines on provision of prenatal cystic fibrosis screening.
The guidelines recommend that screening should be offered to all couples and be recommended to individuals deemed to be at particularly high risk.
"This is a nontrivial issue here; this is for all pregnancies," McInerney notes. "This is now the standard of care."
OB/GYNs should be asking themselves whether they feel they have the appropriate knowledge, training and skills to counsel parents about the implications of seeking prenatal genetic diagnosis, how to interpret the test, and how to provide appropriate follow-up, he adds.
Oncologists have already had to face the emergence of genetic tests for the gene mutations BRCA1 and BRCA2, which have been linked to a higher risk of breast cancer.
A recent paper in the New England Journal of Medicine detailed the potential for using the expression array in particular tumors to predict which ones will metastasize or to target treatment by determining which genes the tumor is expressing.
"These things are already here and they are finding their way into clinical practice," he advises. "It’s important for clinicians to stop viewing medicine in terms of genetic and nongenetic diseases. The fact is, almost all disease processes have some genetic component. Eventually, we are going to find ways to test for, and possibly treat, most of them."
Family history is key
The first thing most physicians should do in terms of improving their genetic education is learn to take a detailed, three-generation family history.
"A good family history is actually your first genetic test," McInerney says. "A good, comprehensive history is an excellent place to start in terms of learning about a patient’s health potential."
The next thing they can do is learn about the genetic screening tests and technologies that are relevant to their practice area.
The medical literature is full of articles on genetic medicine. The New England Journal of Medicine is doing a yearlong series on genomic medicine. And there are many web sites that can provide a wealth of good information, if you know how to look.
"The first thing health care professionals should do is approach their professional organizations and ask what is happening there," he notes. "We work with these societies to develop educational programs."
NCHPEG is developing a new genetics search engine — Genetics Resources on the Web (GROW) — that searches only approved member sites.
NCHPEG has developed procedures to screen organizations that apply to be part of the database, which will ensure the engine only provides links to solid, scientifically valid information.
"There is so much misinformation, there are web sites with even pseudoscience on them," he states. "But we have over 30 organizations involved in our project, and the engine will only search those member sites."
Not just for doctors
It’s also important that other health care professionals, not just physicians, realize they need to be up to date on genetic medicine, too, says J. Vincent Guss Jr., MDiv, a chaplain an Inova Alexandria Hospital in Alexandria, VA, and chairman of the bioethics committee for the Association for Professional Chaplains (APC).
Nurses, social workers, and chaplains will also be called upon by patients contemplating genetic testing or the use of genetic technologies to lend their unique perspectives, he says.
"It is incumbent upon us to help patients access information or put them in touch with professionals who have information and then provide spiritual, pastoral, social and psychological support," he explains. "We are being asked by the people we serve as well as by hospital administrators and doctors wondering where to go for answers."
The APC recently became a member organization of NCHPEG, which will allow certified chaplains access to education and knowledge about genetics, but will also allow the scientists and researchers working on genetic medicine access to the chaplains’ expertise in managing the spiritual, social and cultural dimensions to the changes new technologies bring.
"With their background in pastoral and clinical training, our certified chaplains have a unique perspective because they counsel people of all cultures and religions. We can contribute by providing NCHPEG resources from our disciplines," Guss says.
It will be important for chaplains and others with sensitivity to different religious and cultural perspectives to guide medical professionals in approaching and treating patients, he adds.
"We have experience with the different perspectives on the use of fetal tissue for example — we are not saying it is right or wrong — but will help provide information about which traditions would have a greater sensitivity to it and which would not," he notes.
Chaplains, social workers and other professionals will help enhance consideration of questions related to questions about privacy, the role of genetic information in society, and the dignity of human beings, he points out. "Bringing a pastoral theological approach to that helps to create a dimension of humanity that might be missing from the sterile, scientific, clinical, or legal perspective."
A NCHPEG working group developing the Core Competencies for Genetics, a statement of what the coalition thinks health care professionals should learn and understand about genetics.
"I think the most important statement we make in them is that health care professionals should be able to acknowledge their own capabilities and the limitations of their own expertise," McInerney adds. "If you are a responsible professional, you know where your expertise ends and you need to either pick up the phone or go to the literature."
In particular, if health care providers don’t feel comfortable discussing complex genetic information or explaining genetic principles to patients, he or she needs to know how to make an appropriate referral to a genetic counselor — someone trained in genetics and how to communicate this information to patients.
The same is true of doing pre-test education, counseling, and informed consent, he adds. "If a primary care provider doesn’t feel comfortable doing that, that is something a genetic counselor can do."
In the two years since the competencies have been published, different organizations have looked at the document and chosen which competencies are appropriate for their disciplines and which are not, he adds. "I think that is fine, if they focus on those and not on the ones they feel are less appropriate."
For more information
- The NCHPEG Core Competencies, information on collecting a genetic family history and other slides and information pieces on genetics are available on the NCHPEG web site at www.nchpeg.org.
- Information about locating and referring patients to genetic counselors can be found on the web site of the National Society of Genetic Counselors: www.nsgc.org.
- The University of Washington sponsors a genetic medicine information site, called GeneTests. The site has information on different genetic tests in different specialties, where tests are available, who performs the tests, which labs interpret them, the costs of the tests, and who to contact. The site can be found at www.genestar.org.
Sources
- Joseph D. McInerney, National Coalition for Health Professional Education in Genetics, 2360 W. Joppa Road, Suite 320, Lutherville, MD 21093.
- J. Vincent Guss Jr., Mdiv, Pastoral Care Department, Inova Alexandria Hospital, 4320 Seminary Road, Alexandria, VA 22304.
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