GENETICS
March of Dimes Updates

Integrating genetics into your practice

From the March of Dimes Birth Defects Foundation

Ob/gyns find themselves devoting significantly more time to medical genetics because of the field's increasing impact on clinical practice. Developed by The March of Dimes, a new online genetics resource and continuing education program can help you respond to patients' needs with the most up-to-date, customized, and practical information.

Obstetrics and gynecology as a medical/surgical specialty traditionally has been focused on women's health and reproductive issues during childbearing. Because of new responsibilities in primary care—and especially genetics—ob/gyns must now draw upon an expanding base of information and medical knowledge that previously was not integrated into their practices. This no doubt represents a practice challenge.¹

Genetics in the office setting

Most obstetricians are already applying genetics to their practices. The American College of Obstetricians and Gynecologists (ACOG) recommends genetic counseling for couples at increased risk for birth defects. Counseling enables the couple to become more informed about the disorders involved, the current availability of prenatal and postnatal testing, the accuracy and limitations of such testing, and their reproductive options.²

In a 1999 survey, most obstetricians reported completing standardized family histories for prenatal patients and about half performed their own invasive genetic diagnostic procedures.³ Almost 90% reported having access to genetic counselors and about 70% provided patient counseling in their offices to assess for Down syndrome and other chromosomal aneuploidies associated with advanced maternal age. On this questionnaire, physicians best understood risk assessment and diagnostic testing in the areas of aneuploidy and neural tube defects. Accurate risk assessment and appropriate test selection, however, were more of a challenge for single-gene disorders such as cystic fibrosis, Tay-Sachs disease, and sickle cell disease.³

In the survey, physicians said that rapid advances in testing for genetic disease posed the greatest challenge to professionals in providing patients with information about genetic issues. Knowing which test to order for carrier screening presented the greatest difficulty. At the time of the survey, only 6% of clinicians offered testing for Canavan disease to women of Ashkenazi Jewish descent. Recent research in medical genetics now supports inclusion of Canavan disease in a panel of screening tests that should be offered to Ashkenazi Jewish women in the preconception or prenatal period (Table 1).⁴

TABLE 1
Examples of genetic disorders with higher ethnic frequencies

Limited office time to adequately address a couple's genetic concerns was listed as the next most difficult challenge, as well as lack of patient education literature and of insurance coverage for genetic services. The survey concluded, however, that increased awareness of available information and services provides one option for supplementing office-based counseling and physician education.³

Genetics resources

Responding to the exponential growth of genetics information, the March of Dimes has developed a number of resources for obstetric providers, including MDs, CNMs, RNs, and counselors, as well as patient education materials (Table 2). The newest addition to these resources is an interactive online genetics information Web site and continuing education program, Genetics & Your Practice Online ( http://www.marchofdimes.com/gyponline ) developed by the March of Dimes with funding from the Robert Wood Johnson Foundation. The Web site is free and provides practical information to help integrate genetics into clinical practice. Designed for professionals who work in a primary care setting, it is customized for counseling patients during the preconception/prenatal period, infants/children, and adolescents/adults. Online tools specific to these populations include hotlinks, downloadable elements, and hand-held applications.

TABLE 2
March of Dimes resources for clinicians

ASK US

March of Dimes Pregnancy and Newborn Health Education Center

Information specialists at the March of Dimes answer your questions.

E-mail: askus@marchofdimes.com.

Visit our Web site at www.marchofdimes.com .

The interactive Web site offers process-oriented modules that illustrate step-by-step procedures for taking a family history, performing genetic testing and screening, and making a referral for genetic services. For example, if a clinician wants to know when to refer a patient for genetic services, tools are provided to help locate a professional in their area and to identify the necessary criteria for referral. Continuing medical education credits are available online at no cost through interactive case studies, as well as information on other March of Dimes genetics education programs, such as the Genetics & Your Practice CD-ROM.

Other reliable and useful Web sites that provide additional genetics information and resources for the clinician are listed in Table 3.

TABLE 3
Resources on the Web

Online Mendelian Inheritance in Man (OMIM)
http:/www.ncbi.nlm.nih.gov/omim/

GeneTests http:/www.genetests.org

National Coalition for Health Professional Education in Genetics http:/www.nchpeg.org

Genetic Alliancehttp://www.geneticalliance.org

DNA from the Beginninghttp://www.dnaftb.org/dnaftb/

National Organization for Rare Disordershttp://www.rarediseases.org

Reprotox Reproductive Toxicology Center http://www.reprotox.org

Organization of Teratology Information Services http://www.otispregnancy.org

Additional genetics resources

Other genetics tools and resources are available for the ob/gyn (Table 4). For example, ACOG has developed a monograph entitled Technology Assessment on Genetics and Molecular Diagnostic Testing, which is a comprehensive review of the basics of genetic transmission and genetic technologies in current use.² It also describes gene identification, characterization of disease-causing mutations, and advances in genetic technology that have made an increased number of genetic tests available and useful for diagnosis of genetic disorders, carrier detection, and prenatal or preimplantation diagnosis.

TABLE 4
ACOG resources

ACOG Technology Assessment in Obstetrics and Gynecology. Number 1, July 2002. Genetics and molecular diagnostic testing. Obstet Gynecol. 2002;100:193-211

Genetic Disorders in Pregnancy APO94, February 2001 http://www.acog.com/publicsearch/597_cgi.exe

Cystic Fibrosis Carrier Testing: The Decision is Yours http://www.acog.com/publications/patient_education/cf001.htm

For more information, visit http://www.acog.com .

Complex issues of cystic fibrosis screening

A recent genetics issue that well illustrates the current challenges for ob/gyns is cystic fibrosis (CF) testing and counseling. In March 2001, ACOG announced guidelines, developed jointly with the American College of Medical Genetics (ACMG) recommending that CF screening be offered to all Caucasian patients of Northern European descent or Ashkenazi Jewish origin and their partners who are planning a pregnancy or seeking prenatal care.⁵ All couples, regardless of ethnicity, should be made aware of the availability of CF testing. The ACOG/ACMG guidelines explain that offering these tests helps the clinician identify pregnancies at increased risk and provide information that enables couples to make informed reproductive decisions.⁶ However, some concern has been expressed because of the complexity in CF testing due to numerous mutations and polymorphisms, and the less than 100% detection rate, making it difficult to clearly understand test results and give correct information to patients without increasing anxiety.⁷

ACOG also supports the ACMG recommendation that "a concise summary of the knowledge and expertise needed relative to CF, human genetics, and the interpretation of CF test results should be provided by the professional who will counsel patients."⁸ The ACMG further refers practitioners to materials developed by the Patient Education and Informed Consent Committee, such as the patient brochure "Cystic Fibrosis Carrier Testing: The Decision is Yours."^8,9 To assist clinicians in increasing their comfort with CF screening, the March of Dimes has included in Genetics in Your Practice a model devoted to CF, including information about testing and counseling, and illustrative case histories.

'The end of the beginning'

In April 2003, The Human Genome Project was declared officially complete. Francis Collins, Chief of the National Human Genome Research Institute of the National Institutes of Health, has described the success of the Human Genome Project as, "...the end of the beginning." For the full impact of the recent advances in genetics to benefit medical practice, information is still needed about how specific human gene sequences and their variants play a role in inheritance of common diseases. Although admittedly much has yet to be understood about how our genetic "blueprint" accomplishes its multitude of functions, "the consequences for the practice of medicine are likely to be profound."¹⁰ The role of heredity in diseases is not a new concept, and now, the molecular basis for these hereditary influences on common disease increasingly is being revealed. Understanding the pathways involved in the disease process can have great consequences for diagnosis, developing preventative medicines and therapies, and identifying environmental triggers—all of which have an influence on ob/gyn practice.¹⁰ (Details of the Human Genome Project and related initiatives are available at http://www.genome.gov/ ).

In summary

By 2010 predictive genetic tests are expected to be available for many common conditions, such as a predisposition to diabetes, hyperlipidemias, and other complex disorders. Thus many primary care clinicians will be practicing genomic medicine and explaining complex risk statistics to healthy patients. To do so, more and more clinicians will need to have a significant understanding of genetics.¹⁰

The goal of integrating genetics begins with integration of genetic thinking and principles into each clinician's practice. In the course of routine care, most ob/gyns construct a family history and assess patterns of inheritance. By using resources from ACOG, ACMG, and the March of Dimes along with referrals to genetic counseling where needed, clinicians can broaden their knowledge and understanding of genetic disease and ensure that they can provide state-of-the-art care in a rapidly changing environment.¹¹

REFERENCES

1. Hill LD, Erickson K, Holzman GB, et al. Practice trends in outpatient obstetrics and gynecology: findings of the Collaborative Ambulatory Research Network, 1995-2000. Obstet Gynecol Surv. 2001;56:505-516.

2. Driscoll DA, Wenstrom KD, Williams J 3rd; ACOG Committee on Genetics. ACOG Technology Assessment in Obstetrics and Gynecology. Number 1, July 2002. Genetics and molecular diagnostic testing. Obstet Gynecol. 2002;100:193-211.

3. Wilkins-Haug L, Hill L, Schmidt L, et al. Genetics in obstetricians' offices: a survey study. Obstet Gynecol. 1999;93:642-647.

4. American College of Medical Genetics. Position statement on carrier testing for Canavan disease. Bethesda, Maryland: American College of Medical Genetics, 1998.

5. ACOG News Release. Ob-Gyns Offering Large- Scale Cystic Fibrosis Screening. December 12, 2001. Accessed September 5, 2003 at http://www.acog.com/from_home/publications/press_releases/nr12-12-01-2.cfm

6. American College of Obstetricians and Gynecologists and American College of Medical Genetics. Preconception and Prenatal Carrier Screening for Cystic Fibrosis: Clinical and Laboratory Guidelines. October 2001. Washington, DC. Accessed online September 5, 2003 at http://tinyurl.com/mcq8 .

7. Vastag B. Cystic fibrosis gene testing a challenge. JAMA. 2003;289:2923-2924.

8. American College of Medical Genetics. Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. Genetics in Medicine. 2001;3:149-154.

9. Cystic Fibrosis Steering Committee and the Patient Education Working Group, American College of Obstetricians and Gynecologists and American College of Medical Genetics. Cystic Fibrosis Carrier Testing: The Decision is Yours, 2001. Washington, DC.

10. Collins FS, McKusick VA. Implications of the Human Genome Project for medical science. JAMA. 2001;285:540-544.

11. The Genetic Family History, A newsletter for health care professionals. Vol 1, No. 1. Spring 2003 National Coalition for Health Professional Education in Genetics. Available at http://www.nchpeg.org .

 

Ellen Fiore. March of Dimes Updates: Integrating genetics into your practice. Contemporary Ob/Gyn Nov. 1, 2003;48:99-106.