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Sheridan Davis
Brandon Alva
ENGL 2012
April 16, 2014
When Spelling Really Counts
What if your child, your spouse, a family member or you yourself were suffering from a
rare or unknown disease that through genetic testing answers could be provided as to what or
why? Suppose the genetic information learned from your testing enabled geneticists to provide
answers for someone else. Would you submit your information or your childs information into a
genetic data base? Does privacy become as important as finding out why?
Scientific technology has made astonishing discoveries in the field of genetics. There are
companies popping up, such as 23andMe and Pathway Genomics, that for $99 you can order an
at home DNA kit, and after mailing back your personal cheek swab or saliva sample you will
receive your genetic analysis. After about a month an email of your genetic profile is sent
containing 254 plus possible clues to your health or risk of diseases including rheumatoid
arthritis, asthma, cardiovascular disease, and Parkinsons or Alzheimers. There are 600,000
genetic markers that these companies identify and interpret for each of its customers. This
information that is offered is SNP genotyping or single nucleotide polymorphisms, which is only
about 0.1% of the entire genome. There is also screening for 50 less common genetic mutations,
including cystic fibrosis, sickle-cell anemia, drug sensitivities, and even insight into your
ancestry.
The influx of direct to consumer genetic testing companies raises many concerns and
questions. There are those who oppose direct to consumer testing kits, such as Dr. Muin Khoury,
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director of the National Office of Public Health Genomics at the Centers for Disease Control and
Prevention. He argues that these tests are flawed, the data is incomplete and the uncertainty is
too great (Hamilton). It may not seem like a good idea to allow the public to take their health
into their own hands especially through DTC companies; however there are many proponents for
these companies including biologist Anne Wojcicki and co-founder of the online genetics
research company 23andMe. She maintains making this information available to the masses
allows them to take responsibility for their health and everyone should have access to that
information if they want it. The fact remains, however, that it is a complicated process and not
easy to understand without a doctors guidance. The analysis done through at home kits is only
small sections of your DNA and there are some things that will not be in the analysis and can
only be obtained through certain tests given by a physician, such as certain cancers, type2
diabetes, and coronary artery disease. For full genetic testing it can be expensive, upwards from
$3,000, and is possibly not covered by your insurance company.
Technology in analyzing genes and DNA is advancing and progressing. With this
advance the expertise of genetic counselors becomes more important. In many medical centers
throughout the country the services of a genetic counselor, working in conjunction with doctors,
is available to help in understanding results, counseling in possible scenarios, and synthesizing
the complicated results to enable the patient to make the most informed decisions for themselves
and their families. The decision to test or not to test is very complex and is not the same for
everyone. After counseling there are those who decide they would rather not know about the
possibility of serious genetic illnesses for themselves or their children and do not seek further
genetic testing.
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There are a handful of companies that reads or sequences the entire genome, such as
Illumina a company that fuels life sciences research, translational and consumer genomics, and
molecular diagnostics. What is sequencing? Technology has enabled the complete genetic
material contained within a cell to be read chemical letter by chemical letter, equaling six billion
total. The process starts with a blood sample that is sent to a lab for processing and extraction of
the genetic material. These proteins and fats are washed away leaving the delicate fibers of DNA
which is then sheared into fragments and made easier to read. The first successful sequencing of
a human genome happened in the year 2000; it took 13 years, 3 billion dollars, and millions of
scientists to complete including Francis Collins, from the National Institute of Health. To date
this has been acknowledged as one of humanitys greatest accomplishments. It is so complex that
every letter has to be read and compared. Strings of the chemical letters A, T, C, and G spell out
20,000 genes on the 23 pairs of chromosomes. When there are spelling errors and the DNA is
copied incorrectly or damaged this is when gene mutations or variants appear.
The opportunities for scientific and medical research have endless possibilities and
provide the ability to study gene mutations. Through the anonymous and amassed customer data
base, that you must opt in to, 23andMe collects information via surveys and questionnaires that
provides them with valuable research material. The National Institutes of Health has provided
funding to the company in a research exchange to discover new cures or treatments for diseases
that stem from genetic mutations such as cancer. This in turn may become beneficial to
pharmaceutical companies, hospitals and doctors, scientists and other medical communities
through the same type of research exchange. Special focus has been placed on Parkinsons
research by 23andMe and now they have the worlds largest Parkinsons community for genetic
study. Through analysis they have been able to identify two unique genes that correspond to
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people with Parkinsons and also find a separate group who were predisposed but not showing
symptoms indicating a possible defensive gene (Murphy).
In other biotech research laboratories with the use of gene data bases, genomic research
has also been done for many single-gene diseases, such as Tay-Sachs and cystic fibrosis, which
can now be easily and accurately diagnosed. When the genome of a child is compared with their
parents genome, some genes can be characterized as inherited or de novo. This means the
mutation stems from a gene that has occurred for the first time in the child, not inherited from a
parent. Without these data bases that have been created with genetic information from those who
have had full genetic profiling or partial profiling, the research that scientists and geneticists
have done would not have been possible. Gerard D. Schellenberg, professor of pathology and
laboratory medicine at the University of Pennsylvania, contends that a large number of people
must be linked to their genomes and medical history in order for scientists to be able to explore
and study which genes raise the risk of disease whether through inherited or environmental
factors (Clemmett).
This brings up the issue of privacy and what is being done with genetic information;
when children are brought into the mix, the issue of privacy information becomes especially
important. After Michael Neff had his two young daughters DNA screened for cystic fibrosis,
without his knowledge the samples were stored in a laboratory in the Texas State Department of
Health, instead of being destroyed. In 2009 it was discovered that after 2002 the department had
not been discarding the blood samples after genetic screening and was storing these samples for
use in medical research without informing parents. Neff, along with many other parents, stresses
it should be his and his wifes decision as to how, when, and why their childrens genetic
information is used. David Kaufman, director of research and statistics at the Washington-based
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Genetics & Public Policy Center, says that surveys show the public is more concerned about
being informed how their genetic information is being used than in preventing its use. He also
maintains the large majority across demographic groups say they would support and maybe
even participate in genetic databases (Clemmett 60) as long as there is clarity as to how and
why their information is being used.
Genetic information covers any genetic tests or tests of family members, and any
information about the manifestation of a disease or disorder of a family member or any medical
history. On April 24, 2008 Congress passed the Genetic Information Nondiscrimination Act or
GINA, and May 21, 2008 President George W. Bush signed it into law, making it illegal for
health insurers or employers to discriminate using genetic information (GINA). There are two
parts to the law, Title I the health insurance part that went into effect on May 21, 2009 and
prohibits health insurance companies from using or requiring genetic information to decide
eligibility or coverage. Title II is the employment part and prohibits employers from using or
requiring genetic information in the hiring, promotions, or terminating of employees. It went into
effect on November 21, 2009 (Genetic Testing). Unfortunately the law does not cover
discrimination against life, disability, long-term-care insurance, override individual state laws,
and does not apply to the military.
Rudi Tanzi, Massachusetts General Hospital, has pointed out what if you find out you
have a rare gene mutation and there is nothing you can do to stop or prevent a disease. Journalist
Catherine Elton contends that not everyone can handle finding out their genetic information and
if a disease is going to affect the rest of their life. There is caution from all avenues of the
medical and scientific community; however the science of genomics is rushing full steam ahead
and new challenges are being taken on that were never thought possible. Francis Collins, states
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that Genomics offers us the chance to look, in the most precise way, at what the causes of
illness are and how to prevent and treat illnesses with that information. And we have that
opportunity, now, in front of us (Effros). As long as the genetic information is handled
appropriately and interpreted correctly through educating yourself, the motivation to change lives
could come in ways that otherwise you might not have even considered.
Some health experts such as the Food and Drug Administration worry of the inaccuracy
of results, the consumers misuse of the information and inability to comprehend or interpret the
information without a doctor or genetic counselors guidance. In November 2013 the FDA
ordered 23andMe to stop marketing its genetic test, citing false results may cause customers to
seek drastic lifestyle changes or unnecessary surgical procedures. A spokesperson for 23andMe
claims that the company has strengthened its quality-control systems to ensure accuracy of test
results, and educates its customers about the significance of the results, encouraging them to
discuss the results with doctors and genetic counselors (Loftus). The FDA argues that the public
cannot handle the information that genetic testing provides. But are consumers really that out of
touch that they are going to make a health related decision without the advice and counsel of
their primary care physician? 23andMe includes a disclaimer telling their customers there are
risks and recommends seeking further council. We live in an age of technology, where we have
information and research capabilities at our fingertips, allowing us to search and find answers at
any time or anyplace. The point is we should have the choice to be able to know what is in our
own personal genomes or our childrens, if we want. How can you find answers without research
and education? Research is the key, but we also have to be educated as to what genetics means.
Based on the foregoing information the research benefits far outweigh any privacy or
discriminatory issues. With the disclaimers and the GINA law in place this information should
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not be kept from the public because a few are not able to comprehend or will misuse the results
as claimed by the FDA. We have the capacity to understand if we are kept in the loop through
education. Those of us who want the information should have access to that information. Genetic
testing and the biotechnology industry are not about finding a cure for disease. It is about
research opportunities, finding answers to questions, and discovering new treatments and
therapies for those suffering from a debilitating disease or facing disease. With any opportunity
there will always be drawbacks. Privacy is a big one and there are also no real guarantees in
genetic testing; the testing only indicates probabilities of having or developing a disease.
Nonetheless, the chance to change peoples lives through research is an opportunity that we
cannot ignore.
Many years ago, at age 5, a cousin of mine was diagnosed with a genetic disease,
Metachromatic luekodystropy or MLD. There is no cure and it is terminal. My aunt and uncle
have four children, one has the disease, two have had genetic profiling to see if they are carriers,
and one decided not to be tested. The gene is recessive which means both parents have to be
carriers to pass the disease on and there is a 25% chance of having a child with the disease;
carrier status means just that, you are a carrier of the disease not necessarily that you have or will
have the disease. MLD is a disorder that affects nerve function, muscle control and tone,
behavior and mental function, causes seizures, incontinence, and an endless list of other
symptoms. There is a lack of the important enzyme arylsufatase A, which causes the buildup of
fats called sulfatides and leads to damage of the protective sheaths around nerve cells, the
kidneys, gallbladder and other organs.
The earlier in age the diagnosis is the faster the disease progresses and gets worse over
time with the eventual loss of all muscle and mental function and a life span that varies from 3
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20 or more years depending on when the condition starts. With no cure, symptoms are treated to
try to preserve quality of life, and research is being done to study techniques to replace the
missing enzyme. After recently watching the documentary Cracking Your Genetic Code, many
of the concerns and advantages or disadvantages surrounding genetic testing were brought to my
attention and the connection between possibly being a carrier of this gene mutation. My aunt has
devoted her life to caring for her now 30 year old child, who has become the exception to the
MLD rule. There is no treatment, no cure, no quality of life afforded to Annie. When she was
diagnosed the genetic research was not there, had it been available early intervention treatments
and therapies could have possibly held an impact on her life and slowed the progression of this
devastating disease.
Genetic testing is knowledge, knowledge is power, the more we know about ourselves
the better prepared we will be to handle and take on the future, not only for ourselves for our
children.







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