Genetic counseling alport syndrome
This presentation is the property of its rightful owner.
Sponsored Links
1 / 30

Genetic Counseling & Alport Syndrome PowerPoint PPT Presentation


  • 164 Views
  • Uploaded on
  • Presentation posted in: General

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?.

Download Presentation

Genetic Counseling & Alport Syndrome

An Image/Link below is provided (as is) to download presentation

Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author.While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server.


- - - - - - - - - - - - - - - - - - - - - - - - - - E N D - - - - - - - - - - - - - - - - - - - - - - - - - -

Presentation Transcript


Genetic counseling alport syndrome

Genetic Counseling& Alport Syndrome

Chelsea Alexander, MS, CGC

Genetic Counselor

University of Minnesota Medical Center Fairview


Overview

Overview

  • Genetic Counseling

  • Genetic Counseling in Alport Syndrome

  • Genetic Testing

  • Examples


What is a genetic counselor

What is a Genetic Counselor?


Educational background of 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

What is genetic counseling?


Family questions

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….

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


Genetic counseling alport syndrome

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

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

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

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

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

Genetic Information Nondiscrimination Act

www.genomicslawreport.com/index

  • 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.


What gina does not do

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

Example of genetic counseling


Pedigree symbols

Pedigree symbols


Genetics lingo

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.


Genetic counseling alport syndrome

Norwegian/Finnish

Native American/Irish

microhematuria

Microhematuria + proteinuria or renal failure


Genetic counseling alport syndrome

X-linked Recessive

Norwegian/Finnish

Native American/Irish

microhematuria

Microhematuria + proteinuria or renal failure


X linked inheritance

X-linked Inheritance

  • Genes located on the X chromosome

    • Women = two X chromosomes

    • Men = one X chromosome and one Y

  • COL4A5 gene in Alport syndrome:

    • 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.


Genetic counseling alport syndrome

  • 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


Genetic counseling alport syndrome

  • If the father has X-linked 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.


Genetic counseling alport syndrome

Norwegian

English/Irish

microhematuria

Microhematuria + proteinuria or renal failure


Autosomal recessive

Autosomal Recessive

Norwegian

English/Irish

microhematuria

Microhematuria + proteinuria or renal failure


Autosomal recessive1

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.


Genetic counseling alport syndrome

Italian

English/Irish

microhematuria

Microhematuria + proteinuria or renal failure


Autosomal dominant

Autosomal Dominant

Italian

English/Irish

microhematuria

Microhematuria + proteinuria or renal failure


Autosomal dominant1

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 Services

  • Genetic Counseling at UMMC

    • http://www.uofmmedicalcenter.org/Specialties/GeneticCounseling/S_044824

  • Minnesota Genetic Counseling Association

    • MNGCA, http://mygenepool.org/

  • National Society of Genetic Counselors

    • NSGC, http://www.nsgc.org/


References

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 X-linked alport syndrome. J. Am Soc Nephrol 2010; 21: 876-883.

  • 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


  • Login