Beyond the Genetic Diagnosis: Providing Parents What They Want to Know

Abstract

Clinicians need to provide accurate, up-to-date, and balanced information to parents following a prenatal or postnatal diagnosis of Down syndrome and other genetic conditions. Families want information about the genomic outcomes and medical issues, but they also want information about life outcomes and social supports. Because the anticipated outcomes of a condition can change significantly based on available social support, health care, and services, it is important for clinicians to stay up-to-date about new developments and credible, medically reviewed information about Down syndrome and other genetic conditions to access resources for clinical care.

Is preparation a good reason for prenatal genetic testing? Ethical and critical questions

“…Regardless of their decisions, all of these women and families need clinical, social, and emotional supports (Carlsson, Bergman, Karlsson, Wadensten, & Mattsson, ; Fonda Allen & Mulhauser, ; Hodgson et al, ; Pitt, McClaren, & Hodgson, ; Rapp, ; Sandelowski & Barroso, ). Concerns about the concept of preparation , however, center on the many parents who have decided (or are deciding whether) to continue a pregnancy after a genetic result, and who have reported challenges in finding the information and support they need as they plan for raising a child with a genetic condition (Helm, Miranda, & Chedd, ; Nelson Goff et al, ; Sandelowski & Barroso, ; Saul & Meredith, ; Skotko, ). For these families, the very benefit they hoped prenatal genetic information would provide, preparation , is thwarted by a lack of resources appropriate to their needs.…”

“…The case of Down syndrome, the most common chromosomal condition at birth, is instructive (de Graaf, Buckley, & Skotko, 2015;Levis et al, 2012). Down syndrome, like some other genetic conditions, is considered "severe" in some social contexts and "mild" in others (Saul & Meredith, 2016). Fifty years of improved medical interventions and social accommodations have led to dramatic increases in quality of life and life expectancy in the United States for those with the condition (Bittles & Glasson, 2004;Glasson, Jacques, Wong, Bourke, & Leonard, 2016;Patterson & Costa, 2005).…”

“…Fifty years of improved medical interventions and social accommodations have led to dramatic increases in quality of life and life expectancy in the United States for those with the condition (Bittles & Glasson, 2004;Glasson, Jacques, Wong, Bourke, & Leonard, 2016;Patterson & Costa, 2005). However, many families still report dissatisfaction with the way their clinical providers delivered a Down syndrome diagnosis and with the information and support they received afterward, much of which they reported was outdated and overly negative (Nelson Goff et al, 2013;Saul & Meredith, 2016;Skotko, 2005). Though there are guidelines for delivering a diagnosis of Down syndrome and pediatric guidelines for Down syndrome health supervision include limited information on the prenatal period (Bull, 2011;Sheets, Crissman, et al, 2011;Skotko, Capone, & Kishnani, 2009), there are no comprehensive professional guidelines in the US for clinical management of a pregnancy with Down syndrome (but see recently-issued guidelines from British Columbia [Perinatal Services BC, 2018]).…”

Words that wound

“…Paediatricians should always choose their words carefully when talking to children and parents, particularly about critical topics. Many parents of children with cancer or disability counselled insensitively never forget the exact words the paediatrician used . Parents and children need to be able to hope …”

“…Many parents of children with cancer or disability counselled insensitively never forget the exact words the paediatrician used. 5 Parents and children need to be able to hope. 5,6 Politicians have long recognised the importance of language, used selectively to advance their own ends, but also in terms of protecting freedom of speech.…”