This document outlines the need for a new ethical framework for genetic counseling in the modern genomic era. It discusses how genetic counseling has evolved from primarily focusing on education and autonomy to now requiring more guidance given the increased complexity, impact, and uncertainty of genomic information. The framework proposes six considerations for genetic counselors: whether counseling is pre- or post-test, test complexity, impact, the counselor-patient relationship, the counselor's role, and family interests. It argues counselors may need to provide more tailored recommendations and be less nondirective given these evolving factors.

1. An Ethical Framework for Genetic Counseling in
the Genomic Era
Leila Jamal ScM, PhD, CGC
National Institute of Allergy and Infectious Diseases (NIAID)
Department of Bioethics, National Institutes of Health

2. *Outline
• Background
• Genetic counseling then and now
• Why is a new framework needed?
• Core Principles
• Our Framework

3. *Genetic Counseling
Genetic counselors perform two functions: education and counseling
Genetic counseling is the process of helping people understand and adapt to
the medical, psychological and familial implications of genetic contributions to
disease. This process integrates the following:
• Interpretation of family and medical histories to assess the chance of
disease occurrence or recurrence.
• Education about inheritance, testing, management, prevention, resources
and research.
• Counseling to promote informed choices and adaptation to the risk or
condition
Resta et al. 2006

4. *Nondirectiveness – Why?
• Generally means refraining from providing recommendations or advice
• An effort to distance ourselves from eugenics + abortion politics
• Grounded in respect for persons and patient autonomy (construed as non-
interference)
• More recent practice models are more sophisticated but anchored in the
value of autonomy only
Minna-Stern, 2012; Schupmann et al. (forthcoming)

5. *Genetic and Genomic Testing 1970s-Today
Prenatal Genetics
Carrier testing
Prenatal diagnosis
Pre-implantation genetic
diagnosis
Pediatric Genetics
Diagnosis of rare disease Cancer Genetics
Risk assessment
Treatment and screening
guidance
"Other"
Cardiology
Neurology
Hematology
Infectious disease
Pharmacogenomics
Direct to consumer
Ancestry
???

6. *Patchy but Growing Evidence Base

7. *How might we specify ethical principles in the context
of modern genetic counseling work?
Less
emphasis
More
emphasis

8. *A Framework of Six Considerations
Is Counseling Pre- or Post-Test?
How Complex is the Test Information?
How Potentially Impactful is the Test Information?
What is the nature of the relationship between
counselor/patient?
What professional role is the counselor in?
What are the interests + contributions of family members in the
counseling process?

9. *Pre- Test Genetic Counseling
• In pre-test counseling, counselors present test options and limitations
given an informational or medical need
• Counselors discuss optimal timing of testing; identify most
informative members of family to test
• Patients’ needs determine what information is relevant, but the
information relevant to decisionmaking is mostly technical

10. *Post-Test Genetic Counseling
• Results may be negative, uninformative, inconclusive, or positive
• Downstream decisions maybe about medical management,
pregnancy termination, familial disclosure, behavior change or
prophylactic surgery
• Technical expertise in genetics is important; patients’ personal,
emotional, contextual variables carry special weight
• Physician expertise is highly relevant

11. Pre-Test Counseling Post-Test Counseling
Some tests perform better or
worse given a specific indication
for testing
Patient preferences and physician
expertise are critical
Genetic Counselors should make
recommendations about test
selection
Genetic counselors may provide
technical advice and psychological
support; other inputs may matter
more

12. *Informational Burden

13. “In making a decision about
which categories of
information to receive from
prenatal whole genome
sequencing, how much
help would you want?”
*What do patients want?
Sullivan et al. 2019

14. Low Informational Burden High Informational Burden
Autonomous decisionmaking is
not hard; benefits and risks may
be clear
Autonomous decisionmaking may
be difficult; benefits and risks may
be unclear
Genetic counselors have less need
to be directive
Genetic counselors should distill
implications of testing + provide
advice

15. *Potential Medical Impact of Test?
• Severity of disease?
• Likelihood of disease?
• Effectiveness of intervention?
• Ease, willingness, ability to access intervention?
• Natural history data, evidence base?
Source: Berg et al. Genet Med. 2016 May; 18(5): 467–475.

16. Potentially Low Impact
Results
Potentially High Impact
Results
Testing with low evidence of
association with disease
Testing with weak predictive
power
Testing that can reveal life-saving
information that can be acted
upon (even if it is upsetting to
learn)
Genetic counselors should
discourage testing
Genetic counselors should
encourage testing

17. *Relationship with Patient?
Source: www.UPMC.com

18. *Features of a Counseling Relationship
• Short or long-term
• Psychotherapeutic or medical
• Proximal or long distance
• In-person or remote
• Culturally; socioeconomically concordant or discordant

19. Genetic counselors may tailor
recommendations that depart
from guidelines
Genetic counselors should make
recommendations based on best
evidence + guidelines available
“Close” Relationship “Distant” Relationship
Counselor has detailed knowledge
about a patient or family, has
established trust, plans to follow
up
Counselor does not know patient
or family well

20. *Institutional Role of Counselor
Source: www.myriadwomenshealth.com

21. Clinical Genetic
Counselor
Research Genetic
Counselor
Commercial/Industry
Genetic Counselor
Is reimbursed for services
that aim to optimize
health, quality of life
Is paid by a research grant
to promote informed
research participation
Is paid by private company
to help consumers
understand and safely use
a product
Genetic counselor
recommendations should
promote autonomy,
maximize benefits/minimize
harms
Genetic counselor
recommendations should
promote autonomy, ensure
acceptable benefit/risk ratio,
refer patients for holistic
care elsewhere
Genetic counselor
recommendations should be
based on evidence, patients’
needs, and practice
guidelines – not commercial
interests

22. *Interests of Relatives

23. *Two Reasons for Involving Relatives in
Genetic Counseling
• To Benefit the Relative
• “Duty to Warn” at-risk relatives
• Closure for relatives with a
deceased loved one
• Reproductive counseling
• To Benefit the Patient
• Likelihood of a diagnosis is higher
if you perform exome sequencing
in a patient AND parents
• Variants of uncertain significance
can be down-graded or up-graded
based on genetic info from family
members

25. Benefit to the Relative Benefit to the Patient
High likelihood that genetic info will
improve health of relatives
High likelihood that relatives’ genetic
info will increase the precision, utility
of genomic testing in a patient
Genetic counselors should
recommend testing certain relatives
Genetic counselors should
recommend testing certain relatives

26. *Summary + Implications
• Genetic counselors are ethically justified in providing
recommendations in some areas of their practice
• Patient preferences should still guide GCs in deciding what/how much
information is relevant in securing a “good” outcome
• Time to revisit genetic counseling scope of practice? Implications for
licensure efforts?

27. *Acknowledgments
• Will Schupmann, BA and Ben Berkman JD, MPH
• NIH Department of Bioethics
• Kelly Ormond MS, CGC (Stanford University)
• Petrie-Flom Center

28. *Reciprocal Engagement Model (2007)
Genetic
Counseling
Information is Key
Relationship is
Integral
Autonomy Must
Be Supported
Patients Are
Resilient
Patient Emotions
Make a Difference
McCarthy Veach et al. 2007; Redlinger-Grosse et al. 2016