DNA and its Secrets:
Wellness, Traits and Carrier Status of Genetic
Hereditary Diseases according to 23andMe
By Clément Fortin, retired lawyer
In an article entitled Des gènes britanniques chez des Canadiens français : une énigme de la
généalogie génétique (British Genes in the Genome of French Canadians: a Riddle
of Genealogical Genetics) and published in La Mémoire, No. 147, Summer
2018, of the Société d'histoire et de généalogie des Pays-d'en-Haut, I reported
on three DNA tests that I received from MyHeritage, 23andMe and Ancestry DNA.
Of these three laboratories, only 23andMe offered, for a supplement, to further
analyze my saliva and to communicate the following reports: Genetic Health Risk
Reports, Wellness Reports, Traits Reports and Carrier Status Reports of hereditary
genetic diseases.
Curiosity
inspired me to continue my research. I paid the required supplement and
received these reports. It is not possible or useful to share with you all
their contents. They are written in the medical language. Which is perfectly
legitimate, but beyond my skills. Nevertheless, I will try to report to you the
elements that concern me. If words raise questions in your mind, the Internet
will give you a definition and even more.
Remember
that these reports do not include all possible genetic variants that may affect
these conditions. Other factors may also affect my risk of developing these
conditions, including lifestyle, environment and family history.
Everyone's
genome contains millions of genetic variations, or variants, that make each
person unique. Some contribute to differences between humans like eye colour
and blood type. A small number of variants have been linked with disease. Most
variants have unknown effects. 99.5% of all DNA is shared across all humans; it
is the 0.5% that makes all the difference. Genetic variations, or variants, are
the differences that make each person’s genome unique. DNA sequencing
identifies an individual’s variants by comparing the DNA sequence of an
individual to the DNA sequence of a reference genome maintained by the Genome
Reference Consortium (GRC). I invite you to carry further this study in
clicking on this footnote at the end of this article.[i]
When
I made the decision to order these reports, I told myself that at my age
nothing could scare me and certainly not my genes. However, despite this
bravado, there is still a feverish questioning. Luckily, genetic risk reports
for my health are not scary. These reports indicate only two variants, the
first, without increased risk and the second, with a slightly increased risk.
And if I had inherited this one from my
mother who died at the age of 93? Since it is not possible for me to give you a
definition of each disease that is the subject of this genetic analysis, I
suggest that you search on the Internet.
Genetic Health Risk
Here
are two highlighted reports of genetic risks for my health:
Hereditary
Hemochromatosis (HFE‑Related) Variant
detected, not likely at increased risk
Hereditary hemochromatosis is a genetic condition
characterized by absorption of too much dietary iron. This may lead to iron overload,
which can cause damage to the joints and certain organs, such as the liver,
skin, heart, and pancreas. This test includes the two most common variants
linked to this condition. Hereditary hemochromatosis is caused by certain combinations
of genetic variants. People with only this variant are not likely at risk of
developing iron overload related to hereditary hemochromatosis.
Hereditary
Thrombophilia Slightly increased risk
Hereditary thrombophilia is a predisposition to
developing harmful blood clots. Harmful blood clots are more generally known as
venous thromboembolism (VTE). When they form in the legs, the condition is
known as deep vein thrombosis (DVT). When they travel to the lungs, the
condition is known as pulmonary embolism (PE). People with this variant have a
slightly increased risk of developing harmful blood clots. Lifestyle,
environment and other factors can also affect your risk.
Age-Related Macular Degeneration Variants
not detected
Alpha-1 Antitrypsin Deficiency Variants not detected
BRCA1/BRCA2 (Selected Variants) Variants not detected
Parkinson's Disease Variants not detected
Celiac Disease Variants not detected
G6PD Deficiency Variant not detected
Late-Onset Alzheimer's Disease Variant not detected
Reports on my Wellness
Wellness Reports make connections between my
DNA and traits that may relate to healthy living. They are intended to encourage us to better
balance our diet and our way of life. And to find out how our DNA may affect
our body’s response to diet, exercise and sleep.
Surprisingly, how
accurately can our DNA describe who we are to the smallest detail?
Alcohol Flush Reaction Unlikely to flush
Caffeine Consumption Likely to consume less
Deep Sleep Not determined
Genetic Weigh Predisposed to weigh about average
Lactose Intolerance Likely tolerant
Muscle Composition Common in elite power athletes
Saturated Fat and Weight Likely similar weight
Sleep Movement Likely more than average movement
Reports on my Traits
In this context, a trait is defined
as a distinctive mark that allows someone to be recognized. For example, one
can find that father and son have many common traits. A suggestion is made to
explore the genetics behind our appearance and senses. These enumerated
distinctive traits stick to my skin. And they match what I consume, my weight,
the colour of my eyes, my sense of smell that detects asparagus, etc. I have
the big toe longer and I don't have cheek dimples or a chin cleft…
Asparagus Odour Detection Likely can smell
Cheek Dimples Likely no dimples
Cilantro Taste Aversion Slightly higher odds of disliking
cilantro
Cleft Chin Likely no cleft chin
Earlobe Type Likely detached earlobes
Early Hair Loss Likely hair loss
Earwax Type Likely
wet earwax
Eye Colour Likely blue or green eyes
Fear of Heights Less likely than average to be
afraid of heights
Finger Length Ratio Likely ring finger longer
Freckles Likely little freckling
Hair Photobleaching More likely to experience hair
photobleaching
Hair Texture Likely straight or wavy
Hair Thickness Less likely to have thick hair
Light or Dark Hair Likely light
Misophonia Average odds of hating chewing
sounds
Mosquito Bite Frequency Likely bitten as often as others
Newborn Hair Likely little baby hair
Photic Sneeze Reflex Likely no photic sneeze reflex
Red Hair Likely no red hair
Skin Pigmentation Likely lighter skin
Sweet vs. Salty Likely prefers salty
Toe Length Ratio Likely big toe longer
Unibrow Likely no unibrow
Wake-Up Time Likely to wake up around 7:05 am
Widow's Peak Likely no widow's peak
Carrier Status Reports
Find out if you have
inherited diseases that you could pass on to your children. Given the evolution
of genetics, personally, I would certainly submit to a DNA test in view of
generating a child.
Keep in mind that while carrier
status reports cover many variants, they do not include all possible variants
associated with each condition. It is, therefore, always possible to carry a
variant not included in the test.
I have been tempted to shorten this
enumeration of hereditary genetic diseases. After some thought, I decided not
to delete anything because, for me, this is the most important part of this DNA
test. This is a tool that can save a lot of suffering on this earth. I remind
you that the Internet will describe each of these miseries.
Familial
Mediterranean Fever New Variant not detected
ARSACS Variant not detected
Agenesis of the Corpus
Callosum with Peripheral NeuropathyVariant not detected
Autosomal Recessive
Polycystic Kidney Disease Variant
not detected
Beta Thalassemia and
Related Hemoglobinopathies Variant
not detected
Bloom Syndrome Variant not detected
Canavan Disease Variant not detected
Congenital Disorder of
Glycosylation Type 1a (PMM2-CDG)Variant not detected
Cystic Fibrosis Variant not detected
D-Bifunctional Protein
Deficiency Variant not detected
Dihydrolipoamide
Dehydrogenase Deficiency Variant
not detected
Familial Dysautonomia Variant not detected
Familial
Hyperinsulinism (ABCC8-Related) Variant not detected
Fanconi Anemia Group C Variant not detected
GRACILE Syndrome Variant not detected
Gaucher Disease Type 1 Variant not detected
Glycogen Storage
Disease Type Ia Variant not detected
Glycogen Storage
Disease Type Ib Variant not detected
Hereditary Fructose
Intolerance Variant not detected
Herlitz Junctional
Epidermolysis Bullosa (LAMB3-Related)Variant not detected
Leigh Syndrome, French
Canadian Type Variant not detected
Limb-Girdle Muscular
Dystrophy Type 2D Variant not detected
Limb-Girdle Muscular
Dystrophy Type 2E Variant not detected
Limb-Girdle Muscular
Dystrophy Type 2I Variant
not detected
Maple Syrup Urine Disease Type 1B Variant
not detected
Mucolipidosis Type IV Variant not detected
Neuronal Ceroid Lipofuscinosis (CLN5-Related) Variant not detected
Neuronal Ceroid Lipofuscinosis (PPT1-Related) Variant not detected
Niemann-Pick Disease Type A Variant
not detected
Nijmegen Breakage Syndrome Variant
not detected
Nonsyndromic Hearing Loss and Deafness, Variant
not detected
DFNB1 (GJB2-Related)
Pendred Syndrome and DFNB4 Hearing Variant
not detected
Loss (SLC26A4-Related)
Phenylketonuria and Related Disorders Variant
not detected
Primary Hyperoxaluria Type 2 Variant
not detected
Rhizomelic Chondrodysplasia Punctata Type 1 Variant not detected
Salla Disease Variant not detected
Sickle Cell Anemia Variant not detected
Sjögren-Larsson Syndrome Variant
not detected
Tay-Sachs Disease Variant not detected
Tyrosinemia Type I Variant not detected
Usher Syndrome Type 1F Variant not detected
Usher Syndrome Type 3A Variant not detected
Zellweger Syndrome Spectrum (PEX1-Related) Variant not detected
I
know a cute little girl who suffers from the MCAD Deficiency. Fortunately, her
parents were mindful and provided for her needs at the earliest. Her illness
being identified from the onset, she can live normally. Unless we discover a
miraculous treatment, she will be handicapped for the rest of her life by this
deficiency. You will understand that this subject of study touches me deeply.
This darling child is part of my family. I hope this disease may be cured in a
near future.
I
flew over an interesting and even exciting subject. Research carried out by
major genetics laboratories is making it increasingly possible to detect
genetic hereditary diseases and prevent them from spreading. They now offer
more and more precise tools that will become mandatory.
In
the end, I feel reassured that I have not detected a single variant in this
list of hereditary genetic diseases. However, I find it very difficult to learn
that friends are affected.
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