Kaija L. Zusevics

Views of primary care providers regarding the return of genome sequencing incidental findings

Sequencing of the entire exome or genome is increasingly used in clinical practice. Debate continues, however, regarding which incidental findings (IFs) should be returned and who should be involved in those decisions. Previous empirical research regarding stakeholder attitudes to the return of IFs has primarily involved genetics professionals; non‐genetics health professionals have not been widely surveyed. Given this, a survey regarding return of IFs was administered at the Best Practices in Pediatrics Conference following an educational presentation on genetics terminology and genetic condition examples. A total of 258 participants completed the survey. Of particular note, respondents who were positively disposed to sequencing did not always report wanting to learn about IFs, even if actionable. This is noteworthy given recent American College of Medical Genetics and Genomics guidelines recommending particular actionable IF be returned ‘without reference to patient preference’. This studys findings are important because they provide insight regarding the attitudes to the return of genome sequencing results for an important professional group, primary care providers. Ultimately, as likely gatekeepers to referrals for this technology, their opinions about the test will be key to its successful deployment.

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.

On the Ethics of Clinical Whole Genome Sequencing of Children

* Abbreviations: AAP — : American Academy of Pediatrics ACMG — : American College of Medical Genetics and Genomics MCW — : Medical College of Wisconsin WES — : whole exome sequencing WGS — : whole genome sequencing In 2009, scientists here at the Medical College of Wisconsin (MCW) demonstrated the ability to apply whole exome sequencing (WES) to diagnose a pediatric patient with a rare digestive disease. WES enables the evaluation of the known protein coding DNA sequence of an individual. For the MCW patient, WES provided confirmation of an immune disorder,* thereby warranting treatment with a cord blood transplant: a treatment that saved his life but would not have been undertaken without that confirmation.1 This groundbreaking story was prominently featured in a series of Pulitzer Prize–winning stories in the Milwaukee Journal Sentinel , scholarly publications, and a segment of the PBS television program Nova . As predicted by Francis Collins,2 success of WES in cases like this has spurred interest in further application of this diagnostic tool. MCW has now expanded its program to include whole genome sequencing (WGS) and has since received requests from around the world to perform WGS. Additionally, in partnership with Children’s Hospital of Wisconsin, a pilot program of clinical WGS has recently been completed. As with most new technologies, WGS has sparked controversy concerning whether its clinical application should move forward or if this technology should be confined to the research domain until specific clinical policies are established. Here, we articulate reasons to continue moving forward with clinical WGS. Until recently, the consensus approach to genetic testing and screening in general has reflected cautious limitations on the use of genetic testing on children. … Address correspondence to Thomas May, PhD, Ursula Von der Ruhr Professor of Bioethics, Medical College of Wisconsin, 8701 Watertown Plank Rd, Milwaukee, WI 53226. E-mail: tmay{at}mcw.edu

Project Health: Evaluation of a Project-Based Health Education Program.

Purpose – Milwaukee has very high rates of risky sexual behavior and low rates of academic achievement among adolescents. Milwaukee school representatives partnered with researchers to create and implement an innovative project‐based learning (PBL) high school health curriculum to engage students in school. This health education program, Project Health (PH), aimed to engage Milwaukee Public Schools high school students, by PBL, into the urban health classroom. The purpose of this paper is to examine the impact of the curriculum on student engagement and document the process of implementing this program, in order to identify strengths, weaknesses and areas of needed improvement.Design/methodology/approach – Student engagement was measured with an 18‐item scale at three time points in intervention and control schools. Attendance data were collected by tracking the number of days students were absent from school the semester the curriculum was implemented. Analysis of covariance was used to test whether stud...

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.

Public health genomics: a new space for a dialogue on racism through Community Based Participatory Research

At the least, genomics is a new medical technology that will benefit thosewho have the resources necessary to utilize it. At the most, genomics represents a paradigm shift in how society engages in health care, promotion, and research. The intersection of genomics and the framework that underlies public health offers the opportunity to advance this second possibility. According to one definition, public health genomics (PHG) is ‘the study and application of knowledge about the elements of the human genome and their functions, including interactions with the environment, in relation to health and disease in populations’. Other definitions expand on this concept to include the role of PHG in ameliorating disparities in health outcomes. I would define overall success in public health genomics as the creation of a space in which science and society can engage in a collaborative dialogue about the promises and limitations of genomics within the eco-social determinants of health framework. It is essential for researchers, practitioners, and community members to approach PHG with a social justice framework so that both science and society can ethically navigate the new frontier of genomics. One measure of success that fits within my overall definition of PHG success is to apply the principles of one

Ancillary care, genomics, and the need and opportunity for community-based participatory research.

Gliwa and Berkman (2013) offer a significant contribution to the literature on incidental findings in the age of genomics. Their work points to the need for broader thought about how and by whom th...

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.