The American College of Medical Genetics & Genomics (ACMG) issued an updated statement on how cell free DNA screening should be done. It’s not clear, though, why cfDNA screening should be done.
Over at the Prenatal Information Research Consortium, I have a post summarizing ACMG’s new statement and its recommendations for how to integrate cell free DNA screening into patient care. ACMG sets itself apart from other professional organizations in recommending that cfDNA screening be available to all expectant patients; for requiring laboratories to report more information with a test result; and, by identifying patient and provider resources regarding the tested-for conditions.
However, like every other professional medical organization, ACMG’s statement does not explicitly say why prenatal genetic testing for conditions that cannot be treated prenatally should be recommended for patient care.
Optimize pregnancy outcomes
From ACMG’s statement:
Genetic testing and screening modalities used in pregnancy, such as NIPS, are offered with the aim of providing patients information that can help them optimize their pregnancy outcomes.
NIPS, ACMG’s acronym for “non-invasive prenatal screening,” its chosen term for cfDNA screening, only reports information about the possible genetic make-up of the fetus (and in rare cases, the mother’s chance that she has cancerous cells). For none of the conditions, like Down syndrome or Trisomy 18 or 13, is there yet a recognized prenatal treatment. Anecdotally, many women have spoken of the value of knowing beforehand to allow for preparation; however, there are no studies that find having a prenatal test result has a positive health benefit for the child. Therefore, how does the information gained from NIPS help patients “optimize their pregnancy outcomes”? The ACMG statement does not expressly say.
Earlier gestational age
ACMG’s statement continues:
For the genetic testing and screening modalities used in pregnancy to provide patients with information that can help them optimize their pregnancy outcomes, patients must be allowed to make informed choices that occur across a time continuum. Prenatal screening and diagnostic testing target 20 weeks of gestation as an upper limit for implementation. Decision making is circumscribed by state-specific laws (e.g., 20 weeks), which highlights the importance of timely delivery and processing of accurate and complete information at each step. NIPS can be performed at an earlier gestational age than conventional screening, and there is no gestational age upper limit after 10 weeks of gestation. This means that patients can get the most accurate screening information at an earlier gestational age, thus enhancing informed decision making.
When cfDNA screening was launched, one of its selling points was that it was “trimester independent.” Conventional screening, like nuchal-combined and the quad test, are limited to being done in the first and second trimester, respectively. Cell free DNA screening, on the other hand, can be done throughout the pregnancy, even into the third trimester. What’s more, the later in the pregnancy, the more accurate the results, due to more cfDNA from the pregnancy being present in the mother’s bloodstream. So, if anything, one of the advantages of cfDNA screening is that it is not limited to being done by the second trimester at the latest.
Yet, ACMG cites to studies that make the point that prenatal genetic testing targets 20 weeks gestation. There is the vague statement that “[d]ecision making is circumscribed by state-specific laws” and, this for some unstated reason, “highlights the importance of timely delivery” of prenatal genetic test results. How do state laws prevent decision making? The reader is left to infer. Similarly, how delivering screening information earlier in the pregnancy “enhances informed decision making” is not expressly stated, either.
Reproductive options
ACMG later addresses “reproductive options” in the context of prenatal testing:
Earlier diagnosis facilitates providing up-to-date, balanced, and accurate information at a time that may enable patients to consider the broadest range of reproductive options. In some cases, patients will elect to alter the course of the pregnancy or pregnancy care; others will investigate adoption or choose to learn about the expected outcome, neonatal care, and long-term care for a child with disabilities.
“Elect to alter the course of the pregnancy or pregnancy care”–what is this referring to? How would the course of the pregnancy be altered? And, in the juxtaposition of the phrases, it reads as though they are mutually exclusive of one another: some will alter the course of the pregnancy, others will choose to learn about what it’s like having a child with disabilities. In order for the first option of altering the course of the pregnancy to be the result of an informed decision, must not the patients first find out what the life of a child with disabilities would be like?
That which must not be said
I’ve written before on professional societies’ practice of not stating that which must not be said when addressing prenatal testing. Very likely, in reading these excerpts, the reader knows what ACMG is referring to with the phrasing of “optimize pregnancy outcomes,” “broad range of reproductive options,” and “alter the course of the pregnancy.” What ACMG is referring to is abortion. But, why then does the statement never even mention the word, or even “termination of pregnancy”?
The statement could have read as follows, with the substituted language in italics:
Genetic testing and screening modalities used in pregnancy, such as NIPS, are offered with the aim of providing patients information that can help them decide whether and how to continue the pregnancy, to terminate the pregnancy, or to consider an adoption plan.
For the genetic testing and screening modalities used in pregnancy to provide patients with information that can help them optimize their pregnancy outcomes, patients must be allowed to make informed choices that occur across a time continuum. Prenatal screening and diagnostic testing target 20 weeks of gestation as an upper limit for implementation because state-specific laws (e.g., 20 weeks) limit the availability of abortion, which highlights the importance of timely delivery and processing of accurate and complete information at each step. NIPS can be performed at an earlier gestational age than conventional screening, and there is no gestational age upper limit after 10 weeks of gestation, allowing for NIPS to be performed even into the third trimester, which some may choose because they know they would continue the pregnancy, regardless, but wish to be informed prenatally to prepare. This means that patients can get the most accurate screening information at any gestational age, thus allowing for decisions to terminate the pregnancy or to prepare for a pregnancy that would be continued.
Earlier diagnosis facilitates providing up-to-date, balanced, and accurate information at a time that may enable patients to consider the broadest range of reproductive options, namely whether to abort, continue, or develop an adoption plan. In some cases, patients will elect to terminate the pregnancy or alter the course of pregnancy care; others will investigate adoption; and, all should learn about the expected outcome, neonatal care, and long-term care for a child with disabilities to ensure informed decision making.
The statement, however, did not read this way, which further prompts the question of why?
Why not discuss abortion?
Since the dawn of prenatal genetic testing, the ethical analysis of its administration has been prompted by and focused on the fact that, ultimately, no treatment is available, but women may choose to terminate based on a prenatal genetic test result. Yet, it seems increasingly, professional societies would rather take that issue–that prenatal genetic testing facilitates, indeed can be the reason for, abortion–as something of a given that everyone understands and therefore it does not need to be addressed. But if this is commonly understood, then why not be candid about it?
The reticence to be straightforward about why prenatal genetic testing is even conducted frustrates an open and honest discussion about whether and how prenatal genetic testing should be administered. Yet, these professional society statements are cited routinely by insurers as the basis for covering the costs of prenatal genetic testing. These professional recommendations are cited to establish the standard of care in lawsuits alleging physicians were negligent in not offering, or not reporting sooner, prenatal genetic test results. And, these professional recommendations create a normative effect, first in the professions that follow them, then with their patients who are counseled per the recommendations, and then in general society as to how prenatal care should be done.
But the biggest ethical issue about prenatal genetic testing isn’t even mentioned.
It’s near impossible to have a discussion about how prenatal genetic testing should be conducted if the organizations issuing recommendations on its administration avoid saying the word “abortion.”
Evil is insidious. Those who wish to practice evil know that it must be introduced gradually, subtly, & even secretly so that civilized society will find it more acceptable without realizing they have accepted it.
Thank you for sharing your insight into this deeply entrenched moral quagmire.
I would think that the phrasing is done this way so that people won’t accuse doctors of pressuring pregnant women into going one way or another. Most women receiving a fetal diagnosis of Down Syndrome will have the common sense to think of abortion all on their own, and the other ones who wouldn’t dream of abortion would just be offended at the very idea anyway.
This might be getting off the subject, but after experiencing Down Syndrome for myself, while I don’t want to admit it, I can see how terminating for Down Syndrome can be viewed as a rational decision by women. I know three people with DS myself, and they could never lead the life the media portrays. One is confined to a wheelchair, non-verbal, and must be hand-fed half the time, another is low-functioning too, and her family abandoned her in an institution/nursing home, and another can only speak a few words, and will need life-long care. He’s only 11 and comes from a lower class family, so his long term prospects are uncertain. I’m afraid there are many others out there like this that are not being shown to the public.
Many of the articles we read about this condition appear to come from devoted families that are also affluent enough to care for the life-long care of these children. I would be interested to see detailed surveys from more poor and lower-middle class working families about their experience with a DS child or sibling. From many of the research papers I’ve read on the condition, people with Down Syndrome tend to cluster more among solid middle class families to upper middle class families, which leads me do believe it is being self-selected more by couples who already know they and their family are capable of taking on this responsibility.
I appreciate you asking for better research given that your personal experience is a sample size of 3, with what you acknowledge have probably more contributing factors due to nurturing aspects than the nature aspect of having an extra 21st chromosome, in and of itself. This may take a little work on your part, but if genuinely curious, see this post and the links in it to studies of parents, siblings, and individuals with Down syndrome, themselves. It reports on how they assess their quality of life and represents surveyed results from families having children whose functionality is across the spectrum. I would be interested in the “many research papers” you have read, so please reply with links. An equally logical inference, though, from the premise that children with Down syndrome have a higher incidence in middle to upper middle class families is that those families also typically have a higher than average maternal age. With the chance of Down syndrome increasing as the mother ages, and with middle class families having children later in life, that is the more likely explanation for any clustering.