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Genetics: Past, Present, and Future

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Title: Genetics: Past, Present, and Future


1
Genetics Past, Present, and Future
  • Robert M. Fineman, M.D., Ph.D.

E-mail Web site
2
Genetics is that branch of biology that deals
with heredity and variation.
3
Genotype the genetic constitution of an
individual as applied to a single locus or all
the loci collectively when applied to the entire
genetic constitution, it is synonymous with
genome.
4
Alleles different forms of a gene at the same
locus on homologous chromosomes.
5
Phenotype the appearance or observable nature
of an individual the visible effects of the
interaction of the genotype and the environment.
6
Medical Genetics the science or study of
biological variation as it pertains to health and
disease in humans.
7
Clinical Genetics or Genetic Medicine (also
known now as Genomic Medicine) that part of
medical genetics concerned with health and
disease in individuals and families.
8
Public Health Genetics the use of genetic
information and technology to promote, protect
and, thereby, improve the publics health and
well-being.
9
Genetic Screening the use of various methods or
techniques to evaluate populations or groups of
individuals independent of a family history of a
disorder, and without clinical signs or symptoms.
10
Genetic Testing the use of various methods or
assays to determine the genetic status of an
individual already suspected to be at high risk
for a particular genetic condition because of a
relevant family history, clinical signs or
symptoms, or a positive screening test result.
11
Genetic Variation
  • There is no such thing as THE human genome
    sequence.
  • There is about a 3 million bp difference between
    any two non-related individuals.
  • Common variant sequences (alleles) occur every
    1/1000-1/1500 bp.
  • There are an estimated 2-3 common variants per
    gene (on average).

12
DNA Mutations
  • Nonsense
  • Missense
  • Frameshift
  • Regulatory
  • RNA splicing
  • Expanding trinucleotide repeats
  • Others

13
Our Challenge Is One Of Change
  • Genetics in the Past
  • Human Genome Project/Related Technologies
  • New Genetics/Genomics
  • Genomic Medicine
  • Genomic Medicine and Research
  • Genomics and Society

14
Medical Genetics Timeline
  • 1950s Clinical and mathematical genetics
  • 1960s Cytogenetics, biochemical genetics,
    genetic nosology, dysmorphology, NBS
  • 1970s Prenatal screening/dx, genetic counseling,
    molecular diagnosis
  • 1980s Early genomics, biotechnology

15
The Genetics Center Is A Resource For The
Entire Community
  • Preconception Care/Data/Education
  • Prenatal Care/Data/Education
  • Infant/Childhood Care/Data/Education
  • Adolescent/Adult Care/Data/Education
  • Usually Involves Other Health and Social Services
    Professionals

16
Medical Genetics Timeline
  • 1990s Computers Internet genetic informatics
    genetics of complex diseases molecular medicine
    ethical, social and legal issues
    commercialization and de-academization
    consumerization

17
Genetics in the Past
  • Conditions caused by an extra or missing
    chromosome or part of a chromosome
  • Conditions caused by a mutation in a single gene
    or in a mitochondria

18
Genetics in the Past
  • These conditions
  • are important to the individuals and
    families who have them
  • are relatively rare, even when added together
  • do not affect most people
  • play a small role in health care and society

19
Genetics in the Past
  • These conditions are rare enough such that
    genetic services could be provided by genetic
    health care professionals, with occasional
    involvement of primary care professionals and
    other specialists.

20
Genetics in the Past
  • Regarding research
  • because of their relatively small impact on the
    health of our nation, these conditions were of
    limited interest
  • only very recently did genetics begin to help
    answer basic health care questions

21
Types and Frequencies of Genetic Diseases
  • Type
  • Chromosomal
  • Single Gene
  • Multifactorial
  • (Emory Rimoin, 1997)
  • Lifetime Frequency
  • 3.8/1000
  • 20/1000
  • 646/1000

22
Of the ten leading causes of death in the U.S.,
nine are causally related, in part, to
genetic/genomic factors (CDC, 1997).
  • Heart Disease (31.0)
  • Cancer (23.2)
  • Stroke (6.8)
  • COPD (4.8)
  • Injury (4.2) (? genetic)
  • Pneumonia/Influenza (3.9)
  • Diabetes (2.8)
  • Suicide (1.3)
  • Kidney Disease (1.1)
  • Chronic Liver Disease (1.1)

23
Of the ten leading causes of death worldwide,
nine are causally related, in part, to
genetic/genomic factors
(CDC).
  • Heart Disease (13.7)
  • Stroke (9.5)
  • Pneumonia (6.4)
  • HIV/AIDS (4.2)
  • COPD (4.2)
  • Diarrhea (4.1)
  • Perinatal (4.0)
  • TB (2.8)
  • Tracheal/Bronchial/Lung Cancer (2.3)
  • Traffic Accidents (2.2) (? genetic)

24
Unfortunately, more than 50 of premature death
and disability in the United States is caused by
things people do to themselves or to others,
e.g., smoking, diet and exercise, alcohol and
drugs, violence, etc.
25
The new genetics (or genomics) comes largely
from knowledge derived from the Human Genome
Project and related technologies.
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