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Northwestern University Feinberg School of Medicine
Center for Bioethics and Medical Humanities

Biobanking/Personalized Medicine

Genetic medicine offers physicians additional information by which to diagnose, treat, and prevent illness. Through the use of biobanks, scientists can come to discoveries more efficiently by accessing data and specimens (including DNA) that have already been collected. The use of genetic information in biomedical research and healthcare can come with ethics concerns related to privacy, consent, and accessibility.

Learn more about the work of our center members in this area below.

 Erin Paquette, MD, JD, MBe

Studying questions at the intersection of policy, ethics, and practice; addressing barriers to research participation, particularly for vulnerable populations; examining how changes in federal policies have impacted geographic access to primary care providers for publicly insured children

PICU Biobank Project (Sabrina Derrington, Co-PI)

Proposed changes to federal rules governing research could have a monumental impact on consent for research, particularly for research using biospecimens collected from patients. Biospecimen research can advance care by permitting investigations of population-level differences in disease susceptibility and response to therapy. Yet, this research raises unanswered ethical and regulatory questions, including what constitutes appropriate consent. Current federal regulations provide limited guidance about obtaining consent for such research and do not address unique aspects of obtaining consent in a critical care setting. Our pilot study sought perspectives from 75 parents of critically-ill children, 20 adolescent and young adult patients, and 30 nurses about a broad based prospective opt in consent for biorepository research. Findings will help develop approaches to consent for precision medicine initiatives. We are also developing an electronic consent process that can incorporate multimedia based explanations to improve comprehension of research. Learn more about the PICU Biobank.

Consent Burden

In research on less common illnesses, the scarcity of subjects creates a situation in which a single patient may be eligible for multiple trials. Healthcare providers sometimes perceive being approached for multiple potential studies as overly burdensome to their symptom-laden patients. Concurrent research is an increasingly common practice in the pediatric intensive care unit, but little research has been conducted as to the internal factors which influence a parent's decision to enroll their child in research. This study will determine the influence of several factors on participation in PICU research. In particular, the study will evaluate how parental stress, severity of child illness and concurrent eligibility for multiple studies impact parent willingness to participate in research.

Geographic Access to Primary Care Providers for Low-Income Children

Two decades ago, investigators in a large metropolitan area examined density of Medicaid-eligible children to provider, showing a significant underserved population related to geographic accessibility to primary care providers despite eligibility for health insurance coverage. Policy changes over the last two decades, including the Affordable Care Act (ACA), aim to improve access to care. The ACA has one of its aims specifically to improve the primary care workforce. The impact of these changes on geographic accessibility is unknown. Through geocoding and heat mapping, this study will evaluate geographic trends in provider and recipient locations and, through regression modeling, will examine the relationship between distance and select health outcomes.

For more information, please see my faculty profile.

Publications

See publications in PubMed.

Contact

Contact Erin Paquette, MD,JD, MBe, at 312-227-4800.

 Maureen Smith, MS

Exploring consent and compliance in the use of biological material; developing improvements to the implementation of genetic information in care

As director of the NUgene Project within the Center for Genetic Medicine, I oversee all activities of the genomic biobank at Northwestern. My research includes the ethical, legal, and social implications (ELSI) associated with biobanking practices and large-scale genomics research (through Northwestern’s participation in the Electronic Medical Records and Genomics (eMERGE) Network), including those related to informed consent and responsible data management and sharing practices.

Additionally, I work with a multi-disciplinary team to develop tools and processes that enable the implementation of genomic medicine at Northwestern Medicine. Through these tools, we can incorporate genetic information into electronic health records (EHR) and MyChart for patient communications, that are most beneficial to care and outcomes. Refining these points of interaction with genetic information is crucial to bringing personalized medicine into broader clinical use.

Current Research

The aims of the multiple studies in which I’m currently involved include:

  • Developing and testing effective genetic risk messaging to improve patient outcomes
  • Assessing patient preferences for consent for future research and to understand which biospecimen and biobanking-related research practices are likely to have the greatest impact on willingness to participate in this research (study includes 90,000 participants from across 11 eMERGE  institutions). 
  • Improving the effectiveness and efficiency of informed consent through electronic consenting technology
  • Evaluating the implementation of the genomic testing, specifically as it relates to pharmacogenomics variants (i.e., potential drug response and reaction) at the point of care; initiating a multi-site test of concept
  • Understanding expectations, concerns and informational needs of healthy patients who undergo genetic sequencing

For more information, my faculty profile or visit the NUgene Project.

Publications

See publications in PubMed.

Contact Us

Contact Maureen Smith, MS, at 312-695-0700.

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