The completion of the sequencing of the human genome in 2003 signaled the onset of the genomic era in health care. The knowledge gleaned from the Human Genome Project has led to the understanding that every health problem has a genetic component and that clinicians should include the application of genetic information in all aspects of health care. This article describes the genetic competencies essential for all health care professionals in primary care. Health care professionals should augment their current practice by obtaining a multigenerational genetic family history for each patient, assessing all patients for potentially heritable conditions, providing referrals to genetic health professionals as needed, offering genetic testing when indicated, and considering an individual's genetic makeup in the selection of medications and treatments for that person. Finally, all health care professionals ought to be prepared to address the complex personal, cultural, theological, ethical, legal, and social issues associated with genetic testing and other genetic issues commonly encountered in clinical practice.
Mrs. D is a 29-year-old gravida 1 para 0, who first presented for prenatal care with a certain last menstrual period, which was confirmed with an ultrasound examination at 8 weeks of gestation. Her medical, social, and family histories were uncomplicated. Mrs. D declined first-trimester genetic ultrasound screening and second-trimester maternal serum screening because results of these tests would not alter her decision to continue the pregnancy.During a routine ultrasound examination of the fetus at 21 weeks' gestation, 3 "soft signs" or "markers," which could indicate the presence of a chromosomal abnormality, were noted. The findings included increased nuchal translucency (6.9 mm), a cardiac echogenic focus, and renal pelviectasis (right kidney ϭ 4.8 mm; left kidney ϭ 5.2 mm). At the time of the ultrasound examination, Mrs. D was informed that she may be at risk for having a fetus with a chromosomal abnormality such as Down syndrome.Referral to a genetic counselor was expedited because of her gestational age, and the following week Mrs. D and her husband met with a genetic counselor. During the counseling session, the ultrasound findings were discussed, and the purpose, risks, accuracy, benefits, limitations, and specifics regarding the amniocentesis procedure were reviewed. The couple decided to have an amniocentesis performed. This decision was made because they wanted the opportunity to prepare psychologically and emotionally if, in fact, their baby did have a chromosomal abnormality. Due to the availability of fluorescent in situ hybridization (FISH) testing in the facility where they received care, the couple was able to obtain initial results from the amniocentesis within a few days. FISH analysis tests for the presence of extra or missing chromosomes 13, 18, 21, X, and Y. 1 Three days later, the couple was informed that the FISH results indicated that the fetus did not have a numerical abnormality of chromosomes 13, 18, 21, X, or Y. Formal chromosomal cell culture results followed in 12 days, and the couple was notified that the results indicated the fetus had a normal karyotype with 46 intact chromosomes.According to Mrs. D, at the time of the initial ultrasound findings, her primary concern was that her child would be different and that others would be unkind to him. Over time, she found it distressing that her providers continued to mention the option of terminating the pregnancy, even though she had stated that she would not consider it. Mrs. D reported that the meeting with the genetic counselor was the most helpful part of the experience. The genetic counselor provided a balanced description of the potential risks and benefits of the ultrasound examination findings and the amniocentesis. Moreover, the genetic counselor respected their decision to continue the pregnancy even if the fetus had an abnormality. DISCUSSIONUltrasound screening is rapidly becoming a routine part of prenatal care. In the United States, approximately 65% of pregnant women have one or more ultrasound examinations. 2 Although ...
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