I resolve that my patient’s will make an informed choice about whether to accept prenatal genetic testing for conditions like Down syndrome.
I resolve this because this is what my professional organization, the American Congress of Obstetricians & Gynecologist (ACOG), emphasizes: that decisions about prenatal genetic testing should not be routine, but the result of an informed choice. Therefore, I will not have their blood sample tested for Down syndrome or another genetic condition without their informed consent, nor will I offer prenatal testing as something that is the responsible choice or what is part of routine prenatal care.
I resolve not to present cell free DNA test results as “99% accurate.”
In counseling my patients, when I receive test results from companies like Sequenom, Illumina, Harmony, Natera, Progenity, or Integrated Genetics, I will not mistake their claimed sensitivity or specificity for positive predictive value (PPV). Instead, I will present the results as screen results, results which may be a false positive or a false negative, and note that only invasive diagnostic testing can confirm a screen result. If there is confusion about the test results or if my patient has more questions, I will follow up with the testing laboratory.
I will provide my patients the recommended information to accompany a screen result indicative of Down syndrome.
Prenatal testing is about providing information to my patients–that does not stop and start with simply the test result. The American Congress of Medical Genetics & Genomics (ACMG) identified three resources for patients receiving a positive screen result: Lettercase’s Understanding a Down Syndrome Diagnosis, www.brightertomorrows.org, and the American Academy of Pediatrics (AAP) healthcare guidelines for individuals with Down syndrome. Then, the National Society of Genetic Counselors (NSGC) created an easy, downloadable fact sheet of approved information and additional resources about Down syndrome, with the ACMG’s three resources included. And, in September 2015, ACOG incorporated by reference the NSGC fact sheet in ACOG’s statement on cell free DNA screening. This fact sheet is easily accessible on the internet and I can just print it off with each screen result from MaterniT21, Harmony, verifi, Panorama, or the other cell free DNA screen tests. I resolve to provide this recommended information to my patients receiving a screen result indicative for Down syndrome.
By keeping these resolutions, I’ll be abiding by my professional guidelines, and providing the information recommended for patients undergoing cell free DNA screening. This will result in better prenatal care in 2016.