Response to Art Caplan: provide ALL the recommended information with prenatal testing for Down syndrome

The headline for Art Caplan’s March column for Medscape asked “Disclosing Down syndrome to pregnant patients: must you give an upside?” In it, Caplan raises concerns about recent legislative efforts concerning delivering test results for Down syndrome. His concerns, however, are not based on what those laws actually require.

The laws have become known as “The Down Syndrome Information Act” or “DSIA.” Twelve states have enacted versions of the DSIA since 2012. An article of mine in the April issue of Intellectual and Developmental Disabilities surveys these laws in greater detail.

From Caplan’s critique it appears he has read none of them.

He said that the laws require that patients “get in touch with Down syndrome associations” in their state. No they don’t. What the DSIA does require is that the contact information for those organizations be provided to the patients, but it is up to the patients whether to contact them.

Caplan says that the laws require patients to be counseled in a “more positive way,” which Caplan claims is “spin,” and not the neutral way genetic counseling is supposed to be provided. Again, none of the laws require patients to be counseled in a “more positive way.” Instead, model language from the law I helped to get passed in my home state of Kentucky requires that patients receive:

“Up-to-date, evidence-based, written information about Down syndrome that has been reviewed by medical experts and Down syndrome organizations and includes information on physical, developmental, educational, and psychosocial outcomes, life expectancy, clinical course, intellectual and functional development, and treatment options.”

This is not “spin,” nor does it mandate “more positive” counseling. Instead, it is what is already required by professional medical guidelines.

The American College of Obstetricians & Gynecologists has recognized since 2007 that patients should be provided the “natural history” about Down syndrome and that referral to parent support organizations “may be very helpful.”

The American College of Medical Genetics & Genomics advised in its statement on cell-free DNA screening that, for patients receiving a screen-positive result, “Accurate, up-to-date, and balanced information about Down syndrome (or other tested conditions) should be provided.”

And, the National Society of Genetic Counselors distilled down its guidelines on delivering a Down syndrome diagnosis to a convenient fact sheet for patients and providers, which includes recommended written and support resources, like “local support organizations.”

These laws that Caplan criticizes do not require what he says they do. Rather, when the DSIA follows the model language like that of Massachusetts and Kentucky, it requires providers to follow the same guidelines that recommend offering prenatal testing.

It’s that last point that Caplan ignores entirely. In summing up, he says that people should not be mandated to get information and that a neutral stance should be retained as prenatal testing encompasses more conditions. But, he overlooks that there are professional guidelines that instruct doctors that they should offer prenatal testing for Down syndrome and other conditions. In the administration of prenatal testing, this professional mandate has resulted in the biased view that Caplan’s own column expresses against Down syndrome.

Caplan begins his column describing Down syndrome as a “very common congenital disease [that] leads to intellectual impairment … higher rates of leukemia, and other medical problems.” This medical-only description is common for how providers describe Down syndrome when they deliver a test result for Down syndrome. But too often they are silent about what else is associated with Down syndrome. From the NSGC fact sheet:

• Individuals with developmental disabilities can participate in community sports, activities, and leagues
• Individualized education programs can help children with Down syndrome reach their potential.
• Individuals can be employed competitively or with supports; live independently or in a group home; and have friends and intimate relationships.

Not sharing this fuller picture of a life with Down syndrome is what is “spin.” Focusing on only the medical aspects is a biased portrayal of a life with Down syndrome precisely because it is incomplete.

The Down Syndrome Information Act, by requiring the provision of “accurate, up-to-date, and balanced information,” in fact brings the advice given to patients back to neutral and in compliance with the same guidelines that recommend the offer of prenatal testing. Caplan’s critique is wrong on what these laws require and why they are needed.