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2015 International Health Conference
at
St. Hugh’s College Oxford
June 25-26, 2015
Presenter Dodie Roskies
Director, JGenes Pittsburgh
www.JGenesPgh.org
I INHERITED WHAT?
You and Your Genes
A Community’s Response to New Findings:
It’s Not Just Tay Sachs
A New Era
Genomic technologies make possible
• Powerful tools with potential to diagnose, treat and understand human
disease.
• Precision or personalized genetics targeting cancers and other illnesses
with designed drug interventions.
• New knowledge of poorly understood diseases.
• The discovery of more recessive disease causing mutations.
• Analyzing recessive disease risk among ethnic populations.
• For carriers of genetic diseases to have knowledge and choices in having
healthy babies
Overview
Ethnic diseases
– are genetic risks faced by individuals in families/groups
– are due to intermarriages within small communities
– occur in many communities
Carrier screening and prevention of affected babies
– What is carrier screening?
– Who should be screened for Which diseases and When should it be
done?
– afford options available for carriers to have healthy children
We will look at challenges which may prevent ethnic groups from taking
advantage of the new scientific insights
Genetics Refresher
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The genome is all the DNA and proteins required to maintain the organism
In humans, >21,000 genes in 22 identical chromosome pairs contained in each cell
(autosomes)
23rd pair is the sex chromosome; xx or xy
23 billion DNA letters A,C,G,T
( adenine, guanine, cytosine, thymine)
in each set of chromosomes
the order of the 4 letters is called
sequencing
Single Gene Disorders
in Some Populations
1/12
1/25
Phenylketonuria (PKU)
: Jorde, LB. 2007, Human Genetic Variation and Disease, In Meyers RA (ed.), Genomics and Genetics:
From Molecular Details to Analysis and Techniques, pp. 939-953, Weinheim: Wiley-VCH Publishers, pp.
939-953
Autosomal Recessive Inheritance
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Carriers are healthy
If both parents are carriers…
25% risk with each pregnancy
Males and females are equally affected
Recommendations for Carrier ScreeningOther Ethnicities
19 Ashkenazi Jewish Genetic Diseases
with Devastating Effects
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What is Carrier Screening?
• Examines a healthy individual’s DNA for specific known genetic changes
(mutations). These mutations do not cause disease in the individual
• Does not examine all genes or mutations
• Not a diagnostic test or a risk assessment for the individual
• Typically needs to be a blood test or salivary DNA with genomic
sequencing
• Can be performed at any point in one’s reproductive life, but best time is
preconception
• Is available for other ethnic communities with known recessive diseases
The Pittsburgh Community Plan
• You only know if you are a carrier if you are screened or have a child with
one of the known Jewish genetic disease
• 1 in 3.6 Ashkenazi (European) Jews is a carrier for at least 1 of 19
diseases!
• Target population is men and women between 18 (age of consent) and 40
years
• Education should begin in middle school ( 12 years old) and higher as
students learn about genetics
• Best to screen before conception. Screening when pregnant reduces
choices available to you.
• As the panel of genes expands, one should be screened for new diseases
before each subsequent pregnancy.
• All screenings occur under the education umbrella of genetic counselors
Reasons to Screen for Genetic Diseases
• Many diseases result in early death of the child
• Others manifest cognitive and physical problems, loss of sight or hearing,
and other painful and management issues
• High carrier frequency
• High morbidity/mortality
• High detection rate
• Many options available to mutation carriers; therefore, need to know
status
• Carrier status of two potential parents gives them counseled choices of
whether they could have an affected child, whether they could avoid a
pregnancy of an affected child, and other choices
Jewish Communities are Very Active in
Carrier Screening
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Tay Sachs carrier screening in early 1970’s was very successful
90% reduction in Jewish babies born with Tay Sachs by 2010
Previous success leads to willingness to screen for more
Panels now even larger: 38+ Genes (Mt. Sinai)
Pan-ethnic Panels: >100 genes
There are real and imagined barriers that prevent people from getting
screened
Challenges to Being a Carrier
Insurance issues in the USA
• Genetic Information Non-Discrimination Act (GINA)
–provides some protections for employment (with >15 employees)
and health coverage since 2008
• Disability insurance- is it at risk? Yes, it is not covered by GINA
• Health insurance- is it at risk? No
• Long Term care insurance and life insurance are not covered under
GINA, therefore preventing some people from screening
• Privacy issues; who has access to your medical and insurance
records?
• Discrimination in other, subtle ways
Challenges, continued
Family Challenges
• In certain societies, carriers of a genetic disease bears a stigma for the family
e.g., Ultra Orthodox Jews screen everyone, but keep results away from family
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Fear - parents do not disclose to children, young adults are afraid to find out
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Most families have poor information about great grandparents’ health history
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Screening or sequencing is expensive
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Most insurers do not cover expensive In Vitro Fertilization (IVF) and Preconception
Genetic Diagnosis(PGD) in the USA
Challenges, cont’d
Ethical discussions
• About when life begins; at fertilization? at implantation?, at viability?
• In in vitro fertilization (IVF), some people object to embryos being
discarded or frozen
• Religious prohibitions against abortion, destroying unhealthy fetuses, IVF
in general, single women having IVF
• When both partners are same mutation carriers, decisions to do IVF,
adopt, or take a chance on an unaffected baby are very difficult ones and
should seek genetic counseling
Summary
• Technology is giving us tools to improve our health and that of
our families; genomic sequencing is still in its infancy, but is
already providing deep insight into disease management
• Recessive genetic diseases only affect the offspring of a 2
carrier couple, and one can get screened and, with knowledge
and counseling, make choices about having a healthy baby
• There may be barriers that prevent other ethnic groups from
utilizing technology to avoid babies with devastating diseases.
It behooves communities to develop education programs to
help ethnic groups decide how to handle the choices possible
Resources for More Information
• www.JGenesPgh.org
• Yeshiva University’s Program for Jewish Genetic Health
– Free online educational webinars, etc.
– www.myjewishgenetichealth.com
• Jewish Genetic Disease Consortium
– http://www.jewishgeneticdiseases.org
• Center for Jewish Genetics
– https://www.jewishgenetics.org
• Victor Center
– www.victorcenters.org
– www.youtube.com/watch?v=uVJflKVMqlg
• CDC Office of Public Health Genomics
– www.cdc.gov/genomics/implementation
• ACOG FAQ about “Preconception Carrier Screening” for ALL ethnicities:
– www.acog.org/~/media/For Patients/faq179.pdf
Thank You
Dodie Roskies
Director, JGenesPgh
www.jgenespgh.org
[email protected]