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Genetic Counseling
& Alport Syndrome
Chelsea Alexander, MS, CGC
Genetic Counselor
University of Minnesota Medical Center Fairview
Overview

Genetic Counseling

Genetic Counseling in Alport Syndrome

Genetic Testing

Examples
What is a Genetic Counselor?
Educational Background of a Genetic
Counselor

Master’s degree in human genetics or a
related major

Certified by the American Board of Genetic
Counseling

Qualified to work in a variety of settings:





clinics-(majority)
commercial labs
research labs
state health departments
pharmaceutical companies etc.
What is genetic
counseling?
Family Questions…
What is a “genetic condition”?
 What is genetic testing?
 What can this testing tell us?
 What does this result mean?
 What impact may this have on family
members?
 How do we inform our family?

Genetic counseling is….
Genetic counseling is the process of helping people
understand and adapt to the medical,
psychological, and familial implications of the
genetic contributions to disease.
National Society of Genetic Counselors 2006
Role of Genetic Counselors
• What is the chance of a genetic condition based on
family and personal medical history (pedigree)?
• What are important medical and family concerns?
• Discuss, coordinate, and interpret genetic tests
• Educate individuals about genetic conditions
• Provide counseling/support regarding genetic
information (implications for family members)
What else?

Provide supportive counseling, especially around time of
new diagnosis, pregnancy, etc.

Serve as patient advocates (insurance, referrals).

Serve as a genetics resource.

Research related to medical genetics and genetic
counseling.
Goals of Genetic Counseling




For Families and Individuals to:
 Understand their family history and how it may be
related to a condition
 Discuss and understand the impact of genetic
conditions on relatives and the immediate family
 Participate in decision making about their medical
care
Provide education that is meaningful for families
Discuss genetic testing options and implications
Assist with referrals to support groups and other health
care providers
Genetic Counseling in
Alport Syndrome?

See families at a time of:

New Diagnosis: Education, family history, inheritance,
testing, resources and support

Genetic Testing: Coordinate, review test results and
clinical meaning

Pregnancy: Partner carrier testing, reproductive options

Teens/Young adults: Age appropriate education,
reproductive issues, etc
Genetic Testing

What is it?





A type of medical test (usually blood) that
attempts to identify changes in chromosomes
and/or genes.
May be used to attempt to confirm or rule out
a suspected genetic condition.
Assist in determining a person’s chance of
developing or passing on a genetic disorder.
Has both benefits and limitations.
What do results mean?
Genetic Information
Nondiscrimination Act

Title I: prohibits health
insurers from
requesting/requiring
genetic information for
decisions about coverage,
premium rates, or
preexisting conditions.

Title II: prohibits most
employers from using
genetic information in
decisions of hiring, firing,
or terms of employment.
www.genomicslawreport.com/index
What GINA does NOT do…


Routine tests that do not examine DNA, RNA or
chromosomal changes.
Coverage does not extend to:







Life insurance
Disability insurance
Long-term care insurance
Not a mandate for coverage of tests.
Employment provisions generally do not apply for
employers with >15 employees
Does not prohibit decisions based on
manifestation of disease/disorder.
Some Federal Health Services
Example of genetic
counseling
Pedigree symbols
Genetics “lingo”

DNA- Hereditary material in humans and almost all other
organisms in the cell and is capable of self-replication

Gene- A hereditary unit consisting of a sequence of DNA
that has a specific location on a chromosome and
determines a particular characteristic in an organism.

Mutation/Gene Change- Change in the DNA sequence.

Pedigree- A chart of an individual's ancestors used in
human genetics to analyze inheritance of certain traits,
especially of familial diseases.
Norwegian/Finnish
Native American/Irish
microhematuria
Microhematuria
+ proteinuria or
renal failure
X-linked Recessive
Norwegian/Finnish
Native American/Irish
microhematuria
Microhematuria
+ proteinuria or
renal failure
X-linked Inheritance

Genes located on the X chromosome



COL4A5 gene in Alport syndrome:


Women = two X chromosomes
Men = one X chromosome and one Y
A women can carry a gene change and usually
may have hematuria, but some women
experience more severe symptoms.
Fathers are not expected to pass X-linked
traits to their sons.
Women with X-linked Alport
syndrome:
•
1 chance in 2 (50%)
that a son will have
Alport syndrome
•
1 chance in 2 (50%)
that a daughter will be
a carrier like the mother

If the father has Xlinked Alport
syndrome:


All of his daughters will
inherit the genetic
change (carriers) and
may or may not have
symptoms.
None of his sons would
be expected to have
Alport syndrome.
Norwegian
English/Irish
microhematuria
Microhematuria
+ proteinuria or
renal failure
Autosomal Recessive
Norwegian
English/Irish
microhematuria
Microhematuria
+ proteinuria or
renal failure
Autosomal Recessive

Recessive inheritance (at
conception):



25% chance of having a child
with Alport syndrome
50% chance of having a child
who is a carrier
25% chance of having a child
who does not have Alport
syndrome and is not a carrier

The parents of a child with
Alport syndrome are obligate
carriers

Approximately 50% of
carriers exhibit persistent or
intermittent microhematuria.
Italian
English/Irish
microhematuria
Microhematuria
+ proteinuria or
renal failure
Autosomal Dominant
Italian
English/Irish
microhematuria
Microhematuria
+ proteinuria or
renal failure
Autosomal Dominant

50% chance of having a
child with Alport syndrome
with each pregnancy

Not related to gender

Most individuals have an
affected parent
Genetic Counseling Services

Genetic Counseling at UMMC


Minnesota Genetic Counseling Association


http://www.uofmmedicalcenter.org/Specialties
/GeneticCounseling/S_044824
MNGCA, http://mygenepool.org/
National Society of Genetic Counselors

NSGC, http://www.nsgc.org/
References






R. Artuso, et al. Advances in alport syndrome diagnosis
using next-generation sequencing. Euro J Human Genetics
2012; 20: 50-57.
M. Bekheirnia, et al. Genotype-phenotype correlation in Xlinked alport syndrome. J. Am Soc Nephrol 2010; 21: 876883.
J. Hertz, et al. Clinical utility gene card for: alport
syndrome. Euro J Human Genetics 2012; 20.
M. Slajpah, et al. The importance of non-invasive genetic
analysis in the initial diagnostics of alport syndrome in
young patients. Pediatr Nephro 2005; 20: 1260-1264.
Genetests, http://www.ncbi.nlm.nih.gov
Genetics Home Reference, “Genetic Testing”



http://ghr.nlm.nih.gov/handbook/testing?show=all
NIH, http://www.genome.gov/24519851/
National Society of Genetic Counselors,

www.nsgc.org