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Genetic Testing

Genetic Testing
What Do We Know?

Ronnee Yashon and Michael R. Cummings

MOMENTUM PRESS, LLC, NEW YORK


Genetic Testing: What Do We Know?

Copyright © Momentum Press, LLC, 2018.

All rights reserved. No part of this publication may be reproduced,


stored in a retrieval system, or transmitted in any form or by any
means—electronic, mechanical, photocopy, recording, or any other
except for brief quotations, not to exceed 400 words, without the prior
permission of the publisher.

First published in 2018 by


Momentum Press, LLC
222 East 46th Street, New York, NY 10017
www.momentumpress.net

ISBN-13: 978-1-94664-652-1 (paperback)


ISBN-13: 978-1-94664-653-8 (e-book)

Momentum Press Human Genetics and Society C


­ ollection

Cover and interior design by Exeter Premedia Services Private Ltd.,


Chennai, India

First edition: 2018

10 9 8 7 6 5 4 3 2 1

Printed in the United States of America.


Abstract
It is hard to avoid hearing about genetic testing. It is advertised, ­discussed,
debated, and offered to patients. Some are over the counter, such as
­paternity testing, testing for risk for diabetes, and other conditions in
your family tree.
Some are offered by private companies, some by drug companies,
some by employers, and many others. These tests may or may not show
a distinct answer, so it important for patients to understand these results.
Genetic testing has a questionable history. The United States had a
Eugenics Program back in the 1940s. At state fairs, booths were set up
to test families to determine certain traits. Certain families would win
awards for “good genetics” and those determined to have less than desired
traits (such as mental slowness or criminal tendencies or the “wrong”
color) would be given a lower score.
Later, courts decided which person had undesirable traits and would
be sterilized so they could not pass these traits to their children. The idea
here was to create a population with better genes (therefore healthier and
richer). Families who were chosen received awards this was the time that
people began to see the importance of genetics how. But little did they
know how it would EXPLODE!
This book will look at genetic testing as it applies today and the
­serious decisions that it demands, cannot be ignored. It is advertised,
­discussed, debated, and offered to patients. Some are over the counter,
such as ­paternity testing, testing for risk for diabetes, and other condi-
tions in your family tree.

Keywords
Amniocentesis, Ancestry DNA, Chorionic villus sampling, Chromo-
some, Dominant, recessive and sex linked, Down syndrome, Haploid,
Huntington, Meiosis, Mitochondrial DNA, Prenatal, Risk factors,
­
Ultrasound
Contents
The Basics����������������������������������������������������������������������������������������������ix

Chapter 1 Introduction�������������������������������������������������������������������1
Chapter 2 Prenatal Testing���������������������������������������������������������������3
Chapter 3 Adult Testing������������������������������������������������������������������9
Chapter 4 Screening����������������������������������������������������������������������11
Chapter 5 Ancestry DNA��������������������������������������������������������������13
Chapter 6 Other Tests�������������������������������������������������������������������15
Chapter 7 Laboratory Methods�����������������������������������������������������19
Chapter 8 Landmark Legal Cases��������������������������������������������������21
Chapter 9 Other Interesting Cases�������������������������������������������������25
Chapter 10 Some Interesting Problems��������������������������������������������27

Epilogue�����������������������������������������������������������������������������������������������29
Appendix A������������������������������������������������������������������������������������������31
Decision Making Model������������������������������������������������������������������������33
References���������������������������������������������������������������������������������������������35
Index���������������������������������������������������������������������������������������������������37
The Basics
Here is a very easy description of the process of how DNA works:

Cell

It all starts here in the cells

Nucleus

An organelle that holds chromosome

Chromosome

Are made up of DNA

Genes
Are lined along the DNA and make

Amino Acids
The building blocks of proteins

Line up Amino Acids in the correct order.

And you get

Protein

Proteins are important chemicals in our bodies.


x The Basics

Example: Hemoglobin in blood


If any of these steps are compromised a mutation may occur, for
example a mutated gene causes sickle cell anemia; because the hemo-
globin carries oxygen to our cells it is vitally important. Scientists have
worked with genes for at least 40+ years with the hope that knowing an
answer would lead to medical treatments and possibly cures.
This was done by beginning with a genetic condition, finding the defec-
tive gene (or genes), then its chromosome, as shown in Figure I.1.
But there was one other component still left. What protein did this
gene make and if mutated how would it show up in the body?
A very early story based on a personal conquest is a famous one.
A  woman who began studying genetics in college, spent a lot of time
carrying for her mother, who suffered from Huntington a disease that
begins rather slowly in middle age and becomes worse and worse until
the person dies.
Our scientist, Nancy Wexler, and her father set up a fund to study
the condition and because scientists already knew it was inherited, both
Nancy and her sister had a 50-percent chance of inheriting the defective
gene. At the time there was no treatment for the condition and once it
became active it ran its course until death.

Figure I.1  Human chromosome


A drawing of a chromosome showing the following parts: (1) telomere;
(2) centromere; (3) arm; (4) leg.

Source: This was drawn by our illustrator, Cudra Clover, for this book.
The Basics xi

Figure I.2  Nancy Wexler


Nancy Wexler worked tirelessly to find a way to test for Huntington.
During the early years she worked with a large family in Venezuela
who had very large number of sufferers. The photo shows her with a
child from the family.

Because in this large family, there were many parents each one
carrying the gene, the symptoms begin earlier.

This story is important because Nancy actually found a way to test a


patient, long before symptoms appeared. Who would want this test?

What might you do if this test was offered to your family?

There is no cure or treatment of Huntington and a patient knows that


they will become weaker everyday (onset is about 30 years of age). The
obvious consumer of this test would have a parent with the condition,
and would already know the outcome.
Knowing or not knowing is one of the serious questions a patient has
to face when they use genetic testing.
CHAPTER 1

Introduction
Questions are scattered throughout this chapter and the following chap-
ters. Watch for them and think about how they may apply to you and
other ones.
Genetic disease is caused by a number of things. Before we knew
about cancer being caused partially by environmental factors, we thought
many things caused cancer. Genes in cancer cell cause them to multiply
many times over forming a tumor. How do these genes change to cause
cells to divide uncontrollably?
Mutations are changes in the DNA that can alter the proteins it codes
for and, therefore, cause disease depending on what gene is active. Once
the gene is located, the normal sequences can be disrupted in a number
of ways (see Table 1.1).
Reproductive cells have ½ the number of chromosomes. And are made
by the ovaries and testes and undergo a process called meiosis leaving the
sperm and egg with ½ number of chromosomes (23). When f­ ertilization
occurs the nucleus of the egg and the head of the sperm create a body cell
with 46 chromosomes.

Table 1.1  What changes DNA


At meiosis During meiosis the chromosomes can break
By external change
Free radicals attach to the DNA (epigenetics)
External exposure when in the mother uterus
Disrupting the sequences that turn the gene on or off Inherit a
mutation from a parent
Outside influences As we all know things that mother injests or breathes in can be
harmful to the fetus
When genes are Epigenetics examines what happens within the mother between
turned on and off conception and birth.
Free radicals can make changes by holding the DNA
2 GENETIC TESTING

If, however, a mutation occurred or a mistake in meiosis happens, that


it would be passed on to future generations.
Most inherited conditions are placed into one of three categories
according to how the mechanism of the inheritance of the specific gene
works. They are dominant, recessive, and sex-linked traits. See Table 1.2.

Table 1.2  Three examples of inheritance type


Huntington Dominant A child with a parent with HD has a 50%
chance of inheriting the gene and therefore the
condition
Sickle cell anemia Recessive If both parents have the gene, there is a 25%
chance that the fetus will get both
Color blindness Sex linked The gene for color blindness is on the X
chromosome and two genes are needed to show
the condition, a male can only have one (and
therefore has normal vision)
Index
Adult testing, 9–10 Paternity testing, 15–16
Ancestry DNA, 13–14 PCR (polymerase chain reaction), 19
Association of Molecular Pathology vs. PKU, 11
Myriad Genetics, 21–22 Prenatal testing, 3–8
amniocentesis and, 6
“The breast cancer gene,” 9 Chorionic Villus Sampling (CVS)
and, 6
fetus in uterus, 3
Carrier screening, 11 fetus with Down syndrome, 5
Chorionic Villus Sampling (CVS), 6 human karyotype and, 7–8
Cystic Fibrosis (CF), 25 ultrasound of fetus’s head, 4

DNA Risk factors, adult testing, 9–10


ancestry, 13–14 Roe vs. Wade, 21–23
changes in, 1
mitochondrial, 14 Screening
touch DNA, 20 carrier, 11
Down syndrome, 5 defined, 11
newborn vs. adult testing, 12
Genetic ancestry testing, 13–14 Sex testing, 17–18
Genetic disease, 1 Single nucleotide polymorphisms
Genetic mutations, 11 (SNPs), 14
Genetic testing, 10
in laboratory, 17 Testing
in workplace, 17 in laboratory, 17
Genetics methods, 19
case studies, 25–26 paternity, 15–16
inheritence type of, 2 prenatal, 3–8
landmark legal cases, 21–24 sex, 17–18
problems chart, 27 in workplace, 17
“Touch DNA,” 20
Huntington disease, 5, 10
United States Patent and Trademark
Mitochondrial DNA (mtDNA), 14 Office (USPTO), 21
Mullis, Kary, 20
Mutation, 1 Viability, 23

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