Alison La Pean Kirschner

Does lack of "genetic-relative family health history" represent a potentially avoidable health disparity for adoptees?

Many adoptees face a number of challenges relating to separation from biological parents during the adoption process, including issues concerning identity, intimacy, attachment, and trust, as well as (for older adopted children) language and other cultural challenges. One common health challenge faced by adoptees involves lack of access to genetic-relative family health history (GRFHx). Lack of GRFHx represents a disadvantage due to a reduced capacity to identify diseases and recommend appropriate screening for conditions for which the adopted person may be at increased risk. In this article, we draw out common features of traditionally understood “health disparities” in order to identify analogous features in the context of adoptees’ lack of GRFHx.

Improving the quality of physician communication with rapid-throughput analysis and report cards

OBJECTIVE Problems with clinician-patient communication negatively impact newborn screening, genetics, and all of healthcare. Training programs teach communication, but educational methods are not feasible for entire populations of clinicians. To address this healthcare quality gap, we developed a Communication Quality Assurance intervention. METHODS Child health providers volunteered for a randomized controlled trial of assessment and a report card. Participants provided telephone counseling to a standardized parent regarding a newborn screening result showing heterozygous status for cystic fibrosis or sickle cell disease. Our rapid-throughput timeline allows individualized feedback within a week. Two encounters were recorded (baseline and after a random sample received the report card) and abstracted for four groups of communication quality indicators. RESULTS 92 participants finished both counseling encounters within our rapid-throughput time limits. Participants randomized to receive the report card improved communication behaviors more than controls, including request for teach-back (p<0.01), opening behaviors (p=0.01), anticipate/validate emotion (p<0.001) and the ratio of explained to unexplained jargon words (p<0.03). CONCLUSION The rapid-throughput report card is effective at improving specific communication behaviors. PRACTICE IMPLICATIONS Communication can be taught, but this project shows how healthcare organizations can assure communication quality everywhere. Further implementation could improve newborn screening, genetics, and healthcare in general.

The Limits of Traditional Approaches to Informed Consent for Genomic Medicine

This paper argues that it will be important for new genomic technologies to recognize the limits of traditional approaches to informed consent, so that other-regarding implications of genomic information can be properly contextualized and individual rights respected. Respect for individual autonomy will increasingly require dynamic consideration of the interrelated dimensions of individual and broader community interests, so that the interests of one do not undermine fundamental interests of the other. In this, protection of individual rights will be a complex interplay between individual and community concerns.

Adult adoptees’ attitudes regarding the potential use of genetic information to fill the gap in their family health history:

Genetic testing can provide useful information related to a person’s health history. Adoptees who lack access to family health history due to inherent separation from their birth family are among those likely to benefit from this. Understanding their attitudes, including their hopes and concerns, will allow for better informed and more appropriate applications of genetic testing within this population and will help guide genetic counselling for adult adoptees. This qualitative study, involving four focus groups totalling 17 participants, examined adult adoptees’ attitudes that might influence decision-making around genetic testing. Using the NVivo 10 data analysis method, transcripts were content and thematically coded for: motivations for positive interest in genetic testing/genome sequencing; reasons for lack of interest or uncertainty about genetic testing/genome sequencing; and mixed feelings or overlapping positive and negative comments by the same individual in the same train of thought. Other studies have examined adoptive parents’ attitudes towards genetic testing, but this is the first to give voice to adoptees themselves. The results indicate that while adult adoptees’ attitudes about genetic testing appear to be similar to that of other laypeople, they reported unique concerns and perspectives regarding its potential use and their motivations and deterrents for pursuing it.

Characteristic Pulvinar Sign in Pseudo-α-galactosidase Deficiency Syndrome

Pseudo-α-galactosidase deficiency (PAGD) syndrome occurs when a mutation reduces measured enzyme activity in vitro, despite normal intracellular activity. White matter lesions have been reported infrequently in PAGD syndrome.1 Importantly, to our knowledge, no report mentions characteristic pulvinar hyperintensity on T1-weighted imaging in PAGD syndrome, a highly specific sign of Fabry disease in male patients.2,3 Although atrophy of selective brain areas occurs in a few cases, to our knowledge, no article reports diffuse cortical atrophy by imaging in Fabry disease or PAGD syndrome.1,4 We report a case of a woman in her 40s with a 3-year history of a complex progressive disorder with emotional lability, cognitive decline, generalized ataxia, and autonomic dysfunction. She denied paresthesias, dysesthesias, or loss of sensation. Metabolic testing showed reduced activity of α-galactosidase (0.056 U/L; normal range, 0.074-0.457 U/L). Autonomic testing demonstrated abnormal cardiac parasympathetic function (but no orthostatic hypotension) and a patchy decrease in sweat output on the quantitative sudomotor axon reflex test as well as a markedly abnormal thermoregulatory sweat test, with near complete global anhidrosis. Repeated magnetic resonance imaging (Figure) compared with one the prior year at an outside hospital showed unchanged global diffuse brain volume loss and bilateral mineralization of the pulvinar region of thalami (manifesting as hyperintensity in the pulvinar on T1-weighted imaging). Genetic testing showed the presence of the pseudo-α-galactosidase allele. Neuropsychological testing done in view of diffuse cortical atrophy showed mild neurocognitive and memory deficits (Table), and the patient was diagnosed with mild neurocognitive disorder. Magnetic resonance imaging of the entire spine showed no spinal cord lesions. Cerebrospinal fluid analysis showed elevated protein levels (95 mg/dL) but no pleocytosis (white blood cell counts: 0/μL; polymorphonucleocytes: 7%; lymphocytes: 83%; monocytes: 9%).

Spinal Bulbar Muscular Atrophy: Kennedy Disease

Spinal and bulbar muscular atrophy (SBMA), Kennedy disease, is a relatively rare form of adult motor neuron disease causing progressive proximal spinal and bulbar muscular weakness. SBMA is an X-linked disorder due to a CAG trinucleotide repeat expansion in the androgen receptor gene. As patients are frequently misdiagnosed, genetic testing is diagnostic for SBMA. Depression is common as patients adjust to their diagnosis and prognosis as well as to the guilt of passing on the gene. Genetic counseling should address the psychological impact of the diagnosis and the implications for other family members and their reproductive options.