Breaking the Sounds of Silence: Respecting People With Disabilities and Reproductive Decision Making

Chen and Wasserman propose that prenatal genome sequencing should not be limited by the “severity” of the condition out of respect for parental decision-making but as importantly, in solidarity with people with disabilities.(2016) They carry forward Adrienne Ash’s legacy, articulated during the deliberations of the Hastings Center working group on prenatal testing and disability(Ash and Parens, 2000). As a participant in that group, I was sympathetic to the arguments of Jeff Botkin(2000) and that “drawing lines” between conditions was inevitable, as a pragmatic necessity. But I appreciated the concern that drawing lines and including some conditions, but not others, was arbitrary,(Wertz and Knoppers 2002) and expressed attitudes about disabilities that are hurtful to some of those with those disabilities and harmful to the general public with limited experience of disability. Adrienne Ash’s most enduring legacy was a conviction if we all could put “ourselves in the shoes” of those with disabilities, our views and behaviors would change. She lamented that much of the information that providers, parents, the public receives about disabilities are two dimensional caricatures of medical problems and not balanced or informed by the personal and social experiences of those with disabilities. Ash’s solution is that prospective parent need genuine information before making decisions.

However, as much as I respected Adrienne Ash and others, drawing lines seemed necessary. But Chen and Wasserman have prompted me to reconsider this explicitly by reminding me that what has changed in twenty years are 1) improved informatics and social science knowledge and experience using decision aids to explore values and 2) improved genomic technologies that allow for more results to be offered to prospective parents. Their solution is a two step consent process, that includes 1) exploration of personal values about prenatal testing, 2) selecting conditions based on broad categories. The rightly point out that what they propose is a conceptual framework rather than a specific proposal. Below, I will discuss why I agree with their general idea that professional organizations and insurance providers should not “restrict” women from receiving information about reproductive risk on the basis of perceived severity but instead focus on improving the quality of informed consent (i.e decision-making). Further, I will suggest that while this will not be simple to do effectively but it remains an important aspirational goal, and one worth of supporting through research.

A main thrust of Chen and Wasserman’s analysis is the view that their approach will be more respectful of individuals with disabilities and even promote more favorable social attitudes. Unsupportive public, professional and parental attitudes about disabilities remain a serious issue. On one hand though, I remain optimistic that the availability of prenatal testing does not inevitably result in hurtful, disrespectful, and distorted attitudes about those with disabilities. As a case in point, the availability of prenatal testing for trisomy 13 and 18 also been accompanied more balanced information about the families experience and proposals to allow more potential discretion is providing life prolonging interventions. (Guon et al 2014) Further, expanded prenatal testing itself, could be used a vehicle to directly engage prospective parents. It will be very difficult to disentangle the causal factors towards social attitudes. but efforts to engage parents directly with balanced information is mportant.

Engaging prospective parents about prenatal testing, disabilities and parenthood will not be easy. Prospective parents will have given varying amounts of thought to the issue of caring for a child with a disability, and few will have personal or family familiarity of these issues. Not all parents will welcome an engaged conversation with health care provider about their values related to reproductive and parenting decisions. Nancy Press’s and Carol Browner’s exploration of interactions between pregnant women and providers in the 1980s was aptly titled “Collective Silences, Collective Fictions” because of the challenges of facing these issues head one. (Press and Browner 1994) I think that the concept of a decision aid holds promise. Much empirical research will need to be done to learn how to develop, implement, and disseminate such a tool. But the vision of Chen and Wasserman is one that I believe we should endorse.

Stage two of Chen and Wasserman’s plan is to bin diseases into broad categories. Such a proposal was published the same year (Elias and Annas, 1994) as Press and Browner’s chapter. At that time, I was concerned that the notion of generic consent would only further the silence and undermine authentic consent. (Biesecker and Wilfond, 1994) But as the recent Nobel Laureate has said: “the times they are a changin’”. There has been a growing appreciation that the efforts to categorize conditions into “bins” can be useful in a variety of genomic contexts.(Berg, Khoury, and Evans, 2011). In fact, since 2012, I have been collaborating with Katrina Goddard (Wilfond and Goddard 2015) to offer genomic sequencing to preconception women to learn about their carrier status and evaluates its impact at Kaiser Permanente Northwest (Portand, Oregon). The study is ongoing but we too have attempted to categorize conditions.

We recently published a paper describing the process of developing the categories that we offered to women. This paper describes five different iterations (Korngiebel et al 2016) Our iterations considered three broad categories of variability: “seriousness”, age of onset, and predictability of the phenotype. Our penultimate version is reminiscent of the Chen and Wasserman proposal that distinguishing between physical, intellectual, and behavioral conditions and further stratifying by three to four categories of severity. However, our taxonomy development process included focus groups of patients, patient surveys, and input from an expert panel and the ultimate consensus was to keep in simple and focus on impact on families. We transitioned from iterations with 11 or 12 categories to only five. It is worth noting that the “serious” category was the “default”, to avoid the arbitrary impact of subjective decisions of categorization based on our own attitudes about different conditions. Below are the five categories including the operations definitions used by our team to assign conditions, and the written description provided to patients in italics.

Conditions with significantly shortened lifespan:

Greater than 50% die before age 10. Some people may live longer, but usually die before their 20s or 30s. Most children do not live past early childhood, even with medical interventions

Serious conditions

This is the default category. Conditions will likely end up in this category unless the condition appears to have a better fit to one of the categories below. If there is variation in phenotype, the majority (>50%) have the most severe form. Most children will have medical problems that require regular medical visits, daily medications, carefully monitored diets, or surgeries; or will have serious problems with learning, vision, hearing or mobility. Children may have shortened life spans into early adulthood.

Mild conditions

Signs and symptoms of the condition are typically not life threatening, although in rare instances they might be life threatening. Patients with the condition typically experience only mild or moderate disruption to normal activities and functions (e.g., poor vision vs. blindness). If there is treatment available, the treatment itself is not considered highly burdensome in terms of the medical interventions or lifestyle modifications that are required. With treatment, patients may experience few or no symptoms of the condition. Most children will have medical problems that require occasional extra medical visits, occasional medications, a slightly modified diet, or surgery; or will have mild problems with learning, vision, hearing, or mobility.

Conditions with unpredictable outcomes:

There is a wide range in severity of phenotype. Factors that may vary include age at onset, severity of symptoms, or presence of symptoms. It is not possible to tell how severe the condition will be for a particular individual based on genotype. For instance, there may be families in which siblings carry the exact same mutations, but have vastly different expression of the phenotype. The majority (>50%) will not have the most severe form. It is difficult to predict the outcome for many children. Some children will have more serious versions but others will have more mild versions or no problems at all.

Conditions that begin as adults

Symptoms do not appear for most people (e.g., ~75–80%) until after age 20. Few have any symptoms as children, but medical, behavioral, vision, or hearing problems may begin as adults.

While this project was intended for non pregnant couples, the approach is relevant in the prenatal context as well. We appreciate that further empirical work will be needed to determine if these categories are useful and how the categorization can be improved. Further we hope to learn what assistance people will need with decision making. It may be that decision-aids are useful at both steps of Chen and Wasserman’s vision; both whether to test and what to test for. We also appreciate that we will need to learn more about how to present balanced information about specific conditions once individuals are identified. Such knowledge will be necessary to develop approaches that can allow us to break the “Sounds of Silence” in the interactions between providers and patients about reproductive decision making and that respects and supports people with disabilities as well.