St Hughs College Oxford June 2526 2015 Presenter Dodie Roskies Director JGenes Pittsburgh wwwJGenesPghorg I INHERITED WHAT You and Your Genes A Communitys Response to New Findings ID: 320807
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Slide1
2015 International Health Conference at St. Hugh’s College Oxford
June 25-26, 2015
Presenter
Dodie
Roskies
Director,
JGenes
Pittsburgh
www.JGenesPgh.org
Slide2
I INHERITED WHAT?
You and Your Genes
A
Community’s Response to New Findings:
It’s
Not Just
Tay
SachsSlide3
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
Slide4
Overview
Ethnic diseases
are genetic risks faced by individuals in families/groups
are due to intermarriages within small communitiesoccur 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 insightsSlide5
Genetics RefresherThe 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 sequencingSlide6
Single Gene Disorders in Some Populations
:
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
Phenylketonuria
(PKU)
1/12
1/25Slide7
Autosomal Recessive Inheritance
Carriers are healthy
If both parents are carriers…
25% risk with each pregnancy
Males and females are equally affected Slide8
Recommendations for Carrier Screening-Other EthnicitiesSlide9
19 Ashkenazi Jewish Genetic Diseases with Devastating Effects.Slide10
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 mutationsNot 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 diseasesSlide11
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 counselorsSlide12
Reasons to Screen for Genetic DiseasesMany 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/mortalityHigh 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 choicesSlide13
Jewish Communities are Very Active in Carrier Screening
Tay
Sachs carrier screening in early 1970’s was very successful
90% reduction in Jewish babies born with Tay Sachs by 2010Previous 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 screenedSlide14
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 waysSlide15
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 familyFear - parents do not disclose to children, young adults are afraid to find out
Most families have poor information about great grandparents’ health history
Screening or sequencing is expensive
Most insurers do not cover expensive In Vitro Fertilization (IVF) and Preconception Genetic
Diagnosis(PGD
) in the USASlide16
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 frozenReligious 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 counselingSlide17
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 possibleSlide18
Resources for More Information
www.JGenesPgh.org
Yeshiva University’s Program for Jewish Genetic HealthFree online educational webinars, etc.www.myjewishgenetichealth.com
Jewish Genetic Disease Consortium
http://www.jewishgeneticdiseases.org
Center for Jewish Genetics
https://www.jewishgenetics.org Victor Centerwww.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
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Thank You
Dodie
Roskies Director, JGenesPgh
www.jgenespgh.org
roskiesd@hotmail.com