23andMe Finds Under-Diagnosed Condition With Its New Genetic Health Risk Report

article by Maria Perinic
May 12, 2019

DNA testing has been a way for people to discover their ancestral roots and ethnicity, but recently we have seen a shift in people using this testing for health benefits. Finding out more about potential health risks and contributing to genetic research was a primary reason for people to get interested in DNA testing.

Always attempting to perfect their craft, 23andMe has once again made a breakthrough in health testing. Now you will be able to find out how at risk you are of a commonly misdiagnosed disease called TTR.

What is TTR?

Transthyretin amyloidosis, or TTR, is a rare and life-threatening disease affecting approximately one in 100,000 Americans. It is caused by abnormal and misfolded protein buildup within the body called amyloid. This amyloid is then deposited into different organs or nerves which can impact and permanently damage both.

TTR can affect people as early as in their thirties and sometimes even later, but the TTR mutation is present from birth, so taking the 23andMe test would make you aware of it. Symptoms only start appearing during adulthood and impact on the nerves that detect touch, heat, pain, and sound. This means that TTR can cause a create a tingling sensation, numbness or even pain in the hands as well as the feet.

Other symptoms of TTR include:

  • Nausea
  • Unintended weight loss
  • Vomiting
  • Constipation
  • Carpal tunnel syndrome
  • Headaches
  • Dizziness
  • Sudden drop in blood pressure when rising
  • Problems with your heart, eyes, and kidneys
  • Fatigue
  • Shortness of breath
  • Swelling

Because this disease is genetically passed down, 23andMe now gives you the opportunity to learn about your own risk levels of contracting this disease in their new Genetic Health Risk report. From there you can chat to your doctor and find the best path forward in treating the disease.

In a program which is to be launched later this year, 23andMe in cooperation with Alnylam Pharmaceuticals will be providing 23andMe Health + Ancestry Service kits to first degree relatives. This means parents, full siblings and even adult children of those who have an identified TTR variant will get tested in order for earlier detection and to raise awareness about TTR.

Report Details

There are three main TTR variants that account for as many as 50-80% of TTR cases. It should be noted that if you do not have one of these three most common variants, you can still carry the disease as not all possible TTR variants are tested within the report. Also, not all people that do inherit these variants should actually develop any symptoms. The three main variants are V1221, V30M and T60A. Let’s look into them a little further.

V1221 is most commonly found within African Americans as well as people of West African descent. The people who have this variant will likely have some sort of TTR protein buildup in their heart by the age of 60, and around 10% of elderly African Americans who suffer from congestive heart failure will carry the variant.

V30M can be found with Portuguese, North Swedish or even Japanese descent, but how this variant affects you differs upon your ethnic roots. For example, around 50% of people of Northern Swedish descent will have symptoms appear by age 60, whilst around 90% of individuals with Portuguese descent carrying this variant will develop the condition by the age of 80, but with symptoms coming up to those in their 20s or 30s. People with Japanese descent can have symptoms appear at the age of 20 or even earlier, and as late as 90 years of age.

T60A is most common to those who have Irish descent, but can also be found in individuals of British descent. Symptoms are typically developed between the ages of 45 and 80.


Although this disease is very rare and still very much underdiagnosed, it is particular in that it is frequent in specific ethnicities. The ratio of people of different ethnic backgrounds that carry one of the three variants are as follows:

  • African Americans: one in every 28 people
  • North Sweden: one in every 67 people
  • Northwest Ireland: one in every 90 people
  • Portugal: one in every 625 people

This is not to say, however, that all these people will be affected by the disease. If you are of any of the above-mentioned ethnicities or have family members suffering from it, this is a great opportunity to get tested and speak to your doctor. Finding out more as to how it can affect you and which steps you can take should something transpire would make a world of difference in itself.

Although there is no outright cure for TTR, there is constant research being done to both understand this disease as well as uncover treatments. In saying that, there have been recently approved medications which are now being used in order to decrease the production of the TTR protein.

Additionally, because this protein is mostly created by the liver, many patients have had health benefits resulting from liver transplants.

The most important thing to remember about TTR is that it is a progressive disease, meaning it will get worse as time goes on. It is then vital to catch it as early as possible so that you can treat this condition.

Taking part in a 23andMe DNA test might mean you find out that you have a certain risk level which means you can take your report to your doctor in order to determine a correct diagnosis if there is one. Additionally, you should keep in mind that not all people that have a gene mutation will actually develop the disease in question.

If you want to find out more about some of the best DNA tests around, you can do so here.

Other Health Benefits from 23andMe Health and Ancestry Service

In addition to finding out about TTR, there are many more benefits from taking the 23andMe Health and Ancestry DNA test. You will have access to reports shedding light on the following:

Ancestry Reports

These will include information about:

  • Ancestry Composition
  • Ancestry Detail Reports (33 reports)
  • Maternal Haplogroup
  • Paternal Haplogroup
  • Neanderthal Ancestry
  • Your DNA Family

Health Predisposition Reports

Find out about your possible predisposition of the following health risks:

  • Type 2 Diabetes (a disorder of blood sugar regulation)
  • BRCA1/BRCA2 (risk based on a limited set of variants for breast, ovarian and other cancers)
  • Age-related Macular Degeneration (adult-onset vision loss)
  • Alpha-1 Antitrypsin Deficiency (lung and liver disease)
  • Celiac Disease (a gluten-related autoimmune disorder)
  • Familial Hypercholesterolemia (very high cholesterol)
  • G6PD Deficiency (a form of anemia)
  • Hereditary Hemochromatosis (iron overload)
  • Hereditary Thrombophilia (harmful blood clots)
  • Late-Onset Alzheimer’s Disease (a form of dementia)
  • Parkinson’s Disease (a form of movement impairment)

Wellness Reports

If you have been feeling lackluster lately, especially in terms of energy, it might be up to genetics. 23andMe will be able to shed light and give tips on how to improve on:

  • Alcohol Flush Reaction
  • Caffeine Consumption
  • Deep Sleep
  • Genetic Weight
  • Lactose Intolerance
  • Muscle Composition
  • Saturated Fat and Weight
  • Sleep Movement

Trait Reports

Find which tastes you can and cannot detect within food, depending on your genetics. Other interesting trait reports detail your likelihood of:

  • Ability to Match Musical Pitch
  • Asparagus Odor Detection
  • Back Hair (available for men only)
  • Bald Spot (available for men only)
  • Bitter Taste
  • Cheek Dimples
  • Cilantro Taste Aversion
  • Dandruff
  • Earlobe Type
  • Early Hair Loss (available for men only)
  • Earwax Type
  • Eye Color
  • Fear of Heights
  • Finger Length Ratio
  • Freckles
  • Hair Photobleaching (hair lightening from the sun)
  • Hair Texture
  • Hair Thickness
  • Light or Dark Hair
  • Misophonia (hatred of the sound of chewing)
  • Mosquito Bite Frequency
  • Motion Sickness
  • Newborn Hair
  • Red Hair
  • Skin Pigmentation
  • Stretch Marks
  • Toe Length Ratio
  • Unibrow
  • Wake-Up Time

Carrier Status Report

Receiving over 40 reports in this section alone, you will be able to find out about your carrier status with diseases including:

  • Autosomal Recessive Polycystic Kidney Disease
  • Bloom Syndrome
  • Cystic Fibrosis
  • Familial Dysautonomia
  • Hereditary Fructose Intolerance
  • Leigh Syndrome, French Canadian Type
  • MCAD Deficiency
  • Maple Syrup Urine Disease Type 1B
  • Mucolipidosis Type IV
  • Pendred Syndrome and DFNB4 Hearing Loss (SLC26A4-Related)
  • Sickle Cell Anemia
  • Tay-Sachs Disease
  • Usher Syndrome Type 1F
  • Usher Syndrome Type 3A
  • And many more

The Bottom Line

What was once seen as a tool to find more information about your ethnic background and completing your family tree, DNA testing has now proven to be more popular, with two-thirds of people ranking health information as a top consideration of DNA testing according to a recent survey. Millions of people have taken part in at home DNA testing and in doing so have dramatically contributed to genetic research.

Jhulianna Cintron, the consumer genetics trends expert from 23andMe says, “We want everyone to benefit from the science around the human genome, and that’s why health, ancestry, and research have always been at the core of what we do.”

This is why scientists from all corners of the globe are constantly making strides in research, including that of TTR, a rare and often misdiagnosed disease. Now, with the help of 23andMe, you can find out about your likelihood of having one of three main TTR variants. The progression of this disease depends upon when it is discovered, so it is vital to be able to catch it in time. Get tested today for peace of mind.