May 17, 2019 Breakthroughs in genetics have often raised complex ethical and legal questions, which loom ever larger as genetic testing is becoming more commonplace, affordable, and comprehensive and genetic editing becomes poised to be a consumer technology. As genetic technologies become more accessible to individuals, the ethical and legal questions around the consumer use of these technologies become more pressing. As these questions become more pressing, now is the time to re-consider what ethical and regulatory safeguards should be implemented and discuss the many questions raised by advancements in consumer genetics. Presentation: Jonathan Kahn, James E. Kelley Chair in Tort Law and Professor of Law, Mitchell-Hamline School of Law - Precision Medicine and the Resurgence of Race in Genomic Medicine Learn more: https://petrieflom.law.harvard.edu/events/details/2019-petrie-flom-center-annual-conference

1. Precision Medicine and the
Resurgence of Race in Genomic
Medicine
Jonathan Kahn, JD, PhD
Mitchell Hamline School of Law
(Soon to be of Northeastern University School of Law)

2. The Fall and Rise of Race in Genomics
• 2000: “The only race we are talking about is the human race”
• President Clinton upon the completion of the first draft of the human genome
• 2005: “Race-based medicine could be a steppingstone to the higher goal of
targeted treatment“
• Lawrence Lesko, Director of FDA's Center for Drug Evaluation Research
• 2011: “’precision medicine’ refers to . . . the ability to classify individuals into
subpopulations that differ in their susceptibility to a particular disease.”
• NRC Report: Toward precision medicine:
• 2019: “The under-representation of ethnically diverse populations impedes our
ability to fully understand the genetic architecture of human disease and
exacerbates health inequalities.”
• Sirugo, Williams, Tishkoff. "The Missing Diversity in Human Genetic Studies." Cell 177: 26-31.

3. ASGH. Press Release. April 10, 2019. ASHG Launches Human Genetics Scholars
Initiative Program to Increase, Network, Mentor, and Retain Diverse Early-Career
Researchers https://www.ashg.org/press/201904-HGSI.shtml
ROCKVILLE, Md. – The American Society of Human Genetics (ASHG) is pleased to announce the creation of the Human Genetics Scholars Initiative to increase and support workforce diversity in the human genetics and
genomics research community.
Over the course of the planned five-year program, the Human Genetics Scholars Initiative will provide a two-year, intensive mentoring and skill-building experience for up to 40 promising U.S. trainees and early career
scientists from underrepresented backgrounds. The program will also offer a broader community-building and learning program for up to an additional 200 diverse young researchers. The program will support informal
networking events within the broad human genetics community to promote diversity and create an educational forum for institutions to share best practices in the recruitment, retention, and promotion of diverse leaders
in research. Details of the application process will be announced later this spring.
The program is made possible through a multi-year founding partnership with the National Human Genome Research Institute (NHGRI) and with the valued support of Color, a population health company.
“The tremendous value of diversity and genetic variation is an elemental tenet of human genetics, and inclusion is a core value of the Society,” said Anthony Wynshaw-Boris, PhD, ASHG president-elect. “An inclusive
workforce is a scientific imperative – ensuring diverse perspectives, connections, talents, and expertise will enrich the community and its work.”
The program will provide year-round engagement for all participants through regular educational webinars and chats, as well as events at the ASHG Annual Meeting, the world’s largest human genetics and genomics
meeting. Additionally, it will provide intensive mentoring, travel, and professional support for a smaller group of scholars selected through a competitive process. Beyond these events, the program will increase the
engagement of ASHG with academic institutions and with undergraduates from diverse communities, building awareness about human genetics as an exciting career path and increasing the pipeline of diverse researchers.
Greater diversity is a recognized need in the human genetics community. Findings show that historically underserved populations are under-studied and underrepresented in nationwide and global genetic research
databases, highlighting the de facto exclusion of diverse populations from many health studies and the resulting benefits. Workforce studies demonstrate the need to adopt more effective strategies to recruit, retain, and
promote diverse researchers in research.
The advisory group for the Human Genetics Scholars Initiative will include a range of ASHG members and others with unique perspectives on promoting diversity in science, and will be chaired by Cynthia Morton, PhD, of
Harvard Medical School and Brigham and Women’s Hospital. A past president of ASHG, Dr. Morton has been a longtime leader in efforts to enhance diversity. Moreover, ASHG is pleased that the program has the strong
support of leading organizations within the field. NHGRI is a committed core founding partner in the program, providing a leadership funding level and ongoing advisory support.
“NHGRI is pleased to partner on this important effort, recognizing that workforce diversity is essential and imperative to realizing the promise of human genetics for all,” said Carla Easter, PhD, chief of NHGRI’s Education
and Community Involvement Branch. “By building community cohorts, we can create a network of researchers from historically underserved and underrepresented groups. The Human Genetics Scholars Initiative will help
developing researchers excel in their scientific career tracks and provide support, reinforcement, and enrichment to address the social and economic factors that hinder otherwise promising academic careers.”
The Human Genetics Scholars Initiative will build on and contribute to workforce diversity programs at the National Institutes of Health (NIH), which itself has made the issue a high priority. For instance, ASHG’s initiative
draws programming strategies from the Neuroscience Scholars Program, funded by the National Institute of Neurological Disorders and Stroke, as well as ASHG’s participation in the NIH-funded Maximizing Access to
Research Careers program.
Color, a population health company that provides clinical-grade genetics and digital tools with a deep focus and expertise addressing genetic factors of diverse populations, has joined as a year-one program partner.
Effective programs to enhance diversity in genetics research are essential to close the health equity gap ensuring we all benefit from cutting edge science,” said Alicia Zhou, Color’s VP of Research and Scientific Affairs.
“Color is honored to be part of this exciting program that recognizes the importance of building a diverse workforce from the ground up. The Human Genetics Scholars Initiative will create a lasting foundation that will
support potentially life-saving research for years to come.”
Dr. Wynshaw-Boris said, “Today’s Human Genetics Scholars will make tomorrow’s novel discoveries, help ensure we are increasing diversity in our research populations, and help close the gap on deep health disparities
among underserved populations. This program is an important start to advancing diversity in human genetics community. We look forward to its success and to realizing the benefits of human genetics for all people.”

4. “Diversity” and “Representation” Elide Race
ROCKVILLE, Md. – The American Society of Human Genetics (ASHG) is
pleased to announce the creation of the Human Genetics Scholars
Initiative to increase and support workforce diversity in the human
genetics and genomics research community. . . .
The Human Genetics Scholars Initiative will provide a two-year,
intensive mentoring and skill-building experience for up to 40
promising U.S. trainees and early career scientists from
underrepresented backgrounds.

5. Blurring Diversity and Genetic Variation,
Empirical and Normative Inclusion
• “The tremendous value of diversity and genetic variation is an
elemental tenet of human genetics, and inclusion is a core value of
the Society. . . . An inclusive workforce is a scientific imperative –
ensuring diverse perspectives, connections, talents, and expertise will
enrich the community and its work.”

6. Primary Goal: Diverse Data Bases
Presumed End Point: Health Equity
• “Greater diversity is a recognized need in the human genetics
community. Findings show that historically underserved populations
are under-studied and underrepresented in nationwide and global
genetic research databases, highlighting the de facto exclusion of
diverse populations from many health studies and the resulting
benefits. “

7. The Dual “Promise” of Progress and Equity
• “NHGRI is pleased to partner on this important effort, recognizing
that workforce diversity is essential and imperative to realizing the
promise of human genetics for all. . . By building community cohorts,
we can create a network of researchers from historically underserved
and underrepresented groups.

8. Eliding Responsibility for Inequity
• “The Human Genetics Scholars Initiative will help developing
researchers excel in their scientific career tracks and provide support,
reinforcement, and enrichment to address the social and economic
factors that hinder otherwise promising academic careers.”

9. Workforce Diversity and Genetic Diversity –
again blurring social equity and genetic race
• “Today’s Human Genetics Scholars will make tomorrow’s novel
discoveries, help ensure we are increasing diversity in our research
populations, and help close the gap on deep health disparities
among underserved populations. This program is an important start
to advancing diversity in human genetics community. We look
forward to its success and to realizing the benefits of human genetics
for all people.”

10. What Does Diversity Mean?
• Diversity as (f)“underrepresentation” not “race” per se
• Distinct Issue: What does “representation” mean?
• Scientific Workforce
• Recruitment sites
• Socially Defined Recruitment Cohort
• Ancestry
• Genetic Variation
• Frequencies of genetic variation
• Drug Response
• Levels of Health

11. What does Diversity Do?
• Elides:
• Race
• Environment
• Responsibility for Disparities
• A (f) lack of genetic diversity not historical injustice
• Not redressing injustice in scientific institutions but in “society”
• Blurs:
• Social and Genetic Constructs
• Empirical v. Normative Diversity
• Becomes next Frontier in Cycle of Hype and Hope -- and $$

12. Logical Progression of Diversity
• Racially Diverse Workforce 
• Recruitment of Racially Diverse Research Subjects 
• Broader Representation of Diverse Genetic Ancestries 
• Broader Representation of Genetic Diversity (esp. for rare alleles) 
• Increased identification/Characterization of Actionable alleles 
• Many of which will be disproportionately manifest in diverse populations
• Development of Substantive Clinical Interventions 
• Many of which will address conditions disproportionately manifest in diverse
populations
• Delivery of Interventions to Diverse (socially defined) Populations Suffering
from “health equity gap” 
• Mitigate the Health Equity Gap 
• Make Everything Better for Everybody

13. From Bug to Feature, Stepping Stone to
Foundation
• Race, as “diversity,” is now the sine qua non of both scientific and
social progress
• In practice it is the environment, not race that fades away
• What remains is race understood and used primarily as a genetic
construct