DNA Personalized Medicine

By pjain      Published Aug. 5, 2020, 8:44 p.m. in blog Startups   

Genealogy Business Key Factors and Trends

r To see - ST in Personalized Genetic Health Analysis and coaching

Rapidly Rising Customer Acquisition Costs

Customer acquisition costs, including ad dollars these companies need to spend on sites like Facebook, will need to rapidly increase over time esp. if they were planning to show rapid growth to their VC investors (Ancestry) or to try to IPO (23andme).

ISSUE: Privacy problems - Data Leaks out

Execs of 23andMe have blamed the “Facebook effect” consumers are increasingly freaked out about stories they’re reading in the media about privacy, mostly about Facebook and other technology companies, and are reacting by feeling anxious about getting DNA tests. While billions in fines have been levied on Google and Facebook with Apple and Microsoft avoiding censure so far. However your DNA is a far more personal, legal and can affect your ability to get health insurance. In fact health insurance far less valuable than DNA is restricted with heavy penalties eg. under HIPAA.

Dawn Barry, a former Illumina executive with a start-up in the space called LunaDNA, blames a few factors, especially privacy concerns. Consumers have seen a slew of reports in the past few years about how companies are using their personal data for targeted advertising, without their knowledge, and might be feeling particularly sensitive about their health information.

Golden State Killer case

In the genetics world, the big privacy story involved the Golden State Killer. A suspect was found based on a genetics match, stoking fears about whether individuals can be found and convicted of crimes based on an distant relatives’ DNA. Law enforcement were able to nab a suspect after running DNA from a decades-old crime scene through a free online database, where anyone can upload their genetic information. A suspect was found through a distant relative who might have paid for a test via Ancestry or 23andMe, and then uploaded it into the database. So even though the suspect itself had not uploaded the info, the first cousins allowed law enforcement to match DNA to that close branch of the family tree and then use standard footwork.

Overall, there has been a 2019 on sharp fall in users buying tests due to security issues and concerns. In fact it is likely that the companies might be trying to monetize the VAST VALUE of DNA, or be unable to protect against seizures or demands from government and law authorities.

Users who were considering getting a DNA test decided against it because of the privacy scandals associated with large tech companies like Facebook.up not making the buy.

We remain committed to safeguarding users’ privacy as it looks to fuel growth. “Multiple factors are shaping the emerging consumer genomics category so it’s impossible to draw conclusions from any single data point,” - Ancestry spokesperson

ISSUE: MKT SIZE CAPPED - run out of early adopters, no Recurring Revenues!

Genetics experts and market analysts speculate that the natural expiration of the early adopter wave and growing privacy concerns are to blame

Early adopters are users proactively interested in learning about their health and family history. It makes sense that there’s a subset of people willing to shell out $99 (or more) for that information simply because they’re curious. However the majority are laggards and price-sensitive. This constitutes a chasm - that has slowed or blocked the industry.

  • Market Saturated - 30 million people have been tested,
    • 10m tests 23andMe said that it has sold about 10 million tests Q2'20.
    • 15m tests by Ancestry by May'20 - up by only 7% in 6 months
    • 3-4m all other companies

REGULATION BLOCK: FDA said over-promoted as medical diagnosis, conclusions not data driven

Companies need to finally need to prove Use as Early Adopters fade!

Timeline in Genealogy

2019-2020 Slowdown Covid-19 Hurts - forces Ancestry, 23andMe layoffs

Aug 2019 Illumina acknowledged in an earnings call to investors that the genetic testing category had hit a lull.

Consumers just aren’t buying as many at-home DNA tests as they used to.

Rush for Medical Apps to Try to Save DNA-testing Industry

All the genealogy companies are rapidly investing in health apps - this shows that they are working to appeal to a broader market.

What’s noteworthy about the recent round of layoffs is that Ancestry kept all of its employees at its Ancestry Health business. And 23andMe is still highly focused on its drug development business. That suggests that both companies are indeed hinging their future on developing powerful health applications.

Genealogy Business key factors

NICHE BM$ - GENETIC APPS OPENNESS - Does patient "own" his data? Applications around that data

CHALLENGE: New HIGH PRICED Applications for Growth

Getting to the next 30 million might only be possible if these companies are successfully able to find new applications that are focused on health medically proved, not just ancestry or abstract but unproven wellness. Some of those tests have started to get approved by federal regulators for things like diabetes risk and certain mutations associated with cancer, but there’s a lot more research in the pipeline.

23andMe in particular is focusing on developing a variety of different health reports, ranging from assessing users’ risk for conditions like heart disease and diabetes to their likelihood of having a bad reaction to a medication. One, or some combination, or these health offerings might move the needle, they believe.

r Resources

rp People, Contacts

  • Johns Hopkins University statistical geneticist, Nilanjan Chatterjee, Ph.D., a Bloomberg Distinguished Professor of Biostatistics and Medicine at Johns Hopkins University, Chatterjee is a noted expert in developing risk prediction models, particularly around cancer. As more genetic data becomes available, polygenic risk models are increasingly being used to help calculate the cumulative risk of not just a few genetic variants but the many hundreds or even thousands of variants that convey risk. In addition, these new models can also include other factors — such as lifestyle and environmental influences — to offer a clearer picture of disease risk.

  • Dr. Robert Green, a professor of genetics at Harvard Medical School. “Our research is finding that genetics is about to take its rightful place in medical care for the world.”

    It’s been a challenge for doctors to understand how genetics can inform their patient care. Many haven’t had the education about genetics to understand how to talk about it with their patients or recommend tests that might be beneficial.

LIMITS: DNA is Only Partial - Competition and Fuller Lifestyle, Ethnic, Epigenetics, Biota

Ethnicity Matters - Wider Human Genome Wide data helps

Specially for non-European ethnic groups where the data have been lacking in the past.

Ethnicity impacts accuracy

Your ethnicity may affect the relevance of each report and how your genetic health risk results are interpreted. For example the BRCa genee variants included in this report are most common in people of Ashkenazi Jewish descent and do not represent the majority of BRCA1/BRCA2 variants in the general population.

Lifestyle Factors Matters for Risk Prediction

Lifestyle factors and other non-genetic factors, including various biomarkers, change over time

Epigenetics Expression testing

Biota Genome profiling

Limited Time Value of Factors - DNA one measurement is Enough!

Factors esp epigenetic and lifestyle factors may have limited value for long-term risk prediction based on a single measurement.

t TECHNOLOGY of DNA Sequencing and Analysis Algorithms

Science of DNA Tests

Statistical Genetics based Risk Prediction Science

Genome-wide association studies GWAS correlate Genes and Diseases

How genome-wide association Studies work

Sample size for studies have increased Huge

DNA - one measurement per individual works for entire life

Since we are made of our DNA (and epigenetics), genetic information, including PRS, may be part of data necessary to be input. Information on inherited DNA needs to be collected only once in a lifetime. We often see that genetic predisposition leads to risks that remain over the course of an individual’s lifetime, and non-genetic risk-factors act in a multiplicative fashion on the background of that stable genetic risk.

Regardless of ethnicity - genes impact diseases EVEN across races

In most cases complex diseases have a lot of shared genetic background across different ethnic populations. So we should do everything possible to exploit available data across multiple-ethnic groups to develop polygenic risk scores which are optimized for different ethnic populations.

Polygenic risk scores PGS get better with more data - More stratification possible

Size of GWAS has led to much more improved (polygenic risk scores).

In particular, PRS now is providing meaningful risk-stratification for a number of common diseases like breast cancer, type-2 diabetes and heart disease.

Individual disease risk models for risk-stratification will continue to increase, as sample size for GWAS grows

Common disease Outcomes - PGS good use cases - Diabetes

I am somewhat familiar with 23andMe’s Type-2 diabetes report The underlying methodology used is sound and the data as well as other data shows that a PRS for type-2 diabetes can provide meaningful risk-stratification for individuals especially given that it’s a relatively common outcome. - Chatterjee, JHU

Risk Prediction Models and Clinical Care

All Risk Prediction models are trying to produce an estimate of “risk,” which is a single number. It does not matter whether this is being driven by genetic or non-genetic factors as long the overall model does a good job. B

There are important pros- and cons- for using genetic and non-genetic factors. It can be simpler for people to feed in information on simple factors like BMI, smoking history and family history, through filling out questionnaires.

Since we are made of our DNA (and epigenetics), genetic information, including PRS, may be part of data necessary to be input. Information on inherited DNA needs to be collected only once in a lifetime. We often see that genetic predisposition leads to risks that remain over the course of an individual’s lifetime, and non-genetic risk-factors act in a multiplicative fashion on the background of that stable genetic risk.

One day our routine clinical care may require this Genetic data but we are not there yet.

Value of Genetic Databases of Millions

Companies like 23andMe and Ancestry have sold tests and have databases of millions. They can generate risk factors known as polygenic risk scores. These results could be used by doctors to help steer their patients toward making healthier lifestyle choices to help them avoid getting the disease.

Trend to More Detailed Sequencing Tests

23andMe has dabbled with more accurate but $750 pricey tests but has been reluctant to roll out higher-priced tests while its main focus has been growth using cheap $99 tests.

The direct-to-consumer phenomenon will give way to a more of a proper integration of genomics into the day-to-day care of patients. We may be seeing a course correction, as consumers are waking up to the potential limitations of a cheap $99 test.


WHAT IS THE accuracy of 23andMe tests??

*The 23andMe PGS (polygenic risk score) test includes health predisposition and carrier status reports.

PROBLEM IS THAT Health predisposition reports include both reports that meet FDA requirements for genetic health risks

The test uses qualitative genotyping to detect select clinically relevant variants in the genomic DNA of adults from saliva for the purpose of reporting and interpreting genetic health risks and reporting carrier status. It is not intended to diagnose any disease.

Cancers are Hard to Predicta

The 23andMe Predisposition report does not include variants in other genes linked to hereditary cancers and the absence of variants included in this report does not rule out the presence of other genetic variants that may impact cancer risk.

Hundreds of Genes - Predisposition not Certainty

Each genetic health risk report describes if a person has variants associated with a higher risk of developing a disease, but does not describe a person’s overall risk of developing the disease. The test is not intended to tell you anything about your current state of health, or to be used to make medical decisions, including whether or not you should take a medication, how much of a medication you should take, or determine any treatment.

--- APPS: 1. Early Adopters, Tire-Kickers and Fanatics - Low End Disruption Going Up!

Curiosity and Early Adopter Reports

Neanderthal Report

Mass APPS: 2. Diabetes and Risk Prediction

Diabetes and Genetic Testing TRs

T2D Diabetes and Cardiac Standards of Care

Insulin T2D, Complications, Neuropathy, Amputation, Risk Factors

Pre-diabetes Diagnosis, Delay

Diabetes Policy, Govt Impact

r Diabetes Risk Assessment is HOT AREA for Mass Adoption

Mass apps like Diabetes are Vital for Mass Adoption Millions - but what is benefit?

  • 23andMe plans to put more emphasis on its diabetes report, which it unveiled in the spring, as well as others that might be relevant to millions of people.

  • Across the general U.S. population, around 40% of people are expected to develop type 2 diabetes in their lifetime.

  • More than 1 out of 3 adults currently have prediabetes, but 9 out of 10 people with prediabetes don't know they have it. In prediabetes, blood sugar levels are elevated but are not yet high enough to be considered diabetes. When prediabetes is detected early, diabetes prevention may be possible.

The 23andMe Type 2 Diabetes Health Predisposition report estimates your chances of developing type 2 diabetes by looking at more than 1,000 places in your DNA. The report also equips you with information and tools to help you take action.

BUT Companies FULLY DISCLAIM APPS - net net - no diagnostic value!

  • 23andMe says
    • The 23andMe Type 2 Diabetes Health Predisposition report does not diagnose type 2 diabetes or prediabetes and should not be used to make medical decisions.
    • The report was developed by 23andMe scientists using data and insights gathered from thousands of customers who participate in our research. Reports based on 23andMe research provide an estimate of your likelihood of developing a condition based on your genetics and other factors. This report does not account for lifestyle or family history.
    • The report does not account for every possible genetic variant that could affect your likelihood of developing type 2 diabetes.

Traditional 23andMe positioned as a higher end for diabetes+ Full screening -You can get the Type 2 Diabetes Health Predisposition report and more with 23andMe's Health + Ancestry Service.


23andMeDiabetes Health Predisposition report

SEG: Wellness - little BM$ or uptake as deductions are low probability

SEG: Genealogy - Ancestry, Family Tree

Medical APPS: 3. High end Premium, Paid for by Health Insurance

SEG: Data Driven Medicine Other Apps

Genealogy companies have an opportunity to shift their business models away from wellness and ancestry and into the medical sector.

SEG: Cancer Testing

Color Genomics - offers health tests, including an assessment of cancer risk.


Genius in the Genes?

Chronic Kidney Disease

Inflammation and Immunology

Genetic Associations for Allergies, Asthma and Eczema

The researchers identified 76 genetic variants associated with these sorts of allergic diseases in or near 18 different genes. They found that about 50 of the variants are associated with both a higher risk for developing allergic diseases and developing one of these conditions at a very early age.

The findings indicate that people with the highest genetic risk are likely developing one of these conditions earliest in life. Those with the lowest genetic risk may never develop symptoms. Using this insight also helped researchers identify new genetic associations for these conditions.

  • ENVIRONMENTAL TRIGGERS. While genetics plays an important role, environmental factors also influence the risk of developing an allergic condition. But the findings will help researchers better understand why and how allergic disease develops in some individuals and not others, as well as understand the genetic influences.

Led by Manuel Ferreira, Ph.D., a specialist in the genetics of asthma in Australia, an international team of scientists did a meta-analysis that uncovered new genetic associations for allergies, asthma, and eczema by studying how soon in life individuals developed those conditions.

APPS: 4. Drug Discovery Support

Consumer genomics products are offered by Ancestry and 23andMe These companies started out focused 1. Solely on genealogy or parentage proof 2. Initially were primarily targeted toward the U.S. market but are taking a greater interest in international sales. 3. Now put more emphasis on health-related genetic attributes

These are perhaps are mostly sourced from labs like Illumina.

SEG: Monetizing Selling DNA Research Data to Pharmas

Companies like 23andMe do make money off this information but presumably after asking for consent from users and it has publicly explained its revenue model.

Genealogy companies might not need to keep spending ample marketing dollars to acquire new customers. Instead, they could focus on developing new insights from their existing databases. if they succeed at that, they can forge partnerships to the medical industry.

This is a HIGH PROFIT, LOW COST endeavor as a big part of its business involves its relationships with pharmaceutical companies like GlaxoSmithKline.

SEG: Developing Proprietary Pharmas Medicines

23andMe also has a therapeutics arm, where it is hoping to leverage its database of millions of people’s DNA to develop new drugs.

==== Ancestry.com

  • 2020 Aug - DOUBLED VALUATION - BX to acquire debt,PE for $4.7b The deal is Blackstone’s first acquisition out of Blackstone Capital Partners VIII, the largest-ever private equity fund that raised $26 billion from investors last year. Blackstone is buying Ancestry.com from private equity firms Silver Lake, Spectrum Equity and Permira and Singapore’s sovereign wealth fund GIC,.

  • 2020 Ancestry.com has more than 3 million paying customers in about 30 countries, and earns more than $1 billion in annual revenue. Feb 2020 Ancestry, which has offices in Utah and San Francisco, also cut 100 jobs, representing about 6% of its staff.

  • 2016 Silver Lake and GIC invested in it at a $2.6 billion valuation.

SEG: Ancestry Tracing, Family Tree - West mainly

Launched in 1996 as a family history website

HQ Lehi, Utah-based - probably followup on LDS/Mormon traditionof recording long family trees.


Ancestry.com is the world’s largest provider of DNA services ahead of 23andme, allowing customers to trace their genealogy and identify genetic health risks with tests sent to their home. It harnessed advances in DNA testing and mobile phone apps after 2000 (?) to expand its offerings.



Direct to Consumer FDA Approved SPECIFIC Tests

  • 23andMe is continuing to work with federal regulators to get more of its direct-to-consumer health tests approved.

Products Compare

Ancestry + Traits Service $99

  1. 50+ Ancestry Reports including: Ancestry Composition , Ancestry Detail Reports , Maternal & Paternal Haplogroups , Neanderthal Ancestry

  2. DNA Relative Finder (opt in) - Find and connect with relatives in the 23andMe database who share DNA with you.

  3. Automatic Family Tree Builder - Start a family tree automatically based on your DNA.

  4. Trait Reports - 30+ traits including: Male Bald Spot, Sweet vs. Salty, Unibrow

  5. Raw Data is INCLUDED. Access your raw, uninterpreted genetic data file. Must not be used for medical or diagnostic purposes. ?? WHAT IS FORMAT OF THIS ?? IS THIS AMENABLE TO DNA ANALYSIS REPORTS? **This data has undergone a general quality review however only a subset of markers have been individually validated for accuracy. The data from 23andMe’s Browse Raw Data feature is suitable only for informational use and not for medical, diagnostic or other use. Consult with a healthcare professional before making any major lifestyle changes.

NOTE: You CAN Add Health Predisposition, Carrier Status, and Wellness reports for $125*** LATER ON.

Health + Ancestry Service $199

  • Includes Ancestry + Traits Service and following

1, Health Predisposition Reports 10+ reports including: BRCA1/BRCA2 (Selected Variants) is indicated for reporting of the 185delAG and 5382insC variants in the BRCA1 gene and the 6174delT variant in the BRCA2 gene. The report describes if a woman is at increased risk of developing breast and ovarian cancer, and if a man is at increased risk of developing breast cancer or may be at increased risk of developing prostate cancer. The three variants included in this report are most common in people of Ashkenazi Jewish descent and do not represent the majority of BRCA1/BRCA2 variants in the general population.

The PGS test is not a substitute for visits to a healthcare professional for recommended screenings or appropriate follow-up. Results should be confirmed in a clinical setting before taking any medical action. For important information and limitations regarding each genetic health risk and carrier status report, visit 23andme.com/test-info/

  • Late-Onset Alzheimer's Disease

  • Type 2 Diabetes ( Powered by 23andMe Research ) The 23andMe Type 2 Diabetes health predisposition report which is based on 23andMe research and has not been reviewed by FDA.

  • Carrier Status Reports* 40+ reports including: Cystic Fibrosis, Sickle Cell Anemia, Hereditary Hearing Loss Our carrier status reports can be used to determine carrier status, but cannot determine if you have two copies of any genetic variant. These carrier reports are not intended to tell you anything about your risk for developing a disease in the future, the health of your fetus, or your newborn child's risk of developing a particular disease later in life. For certain conditions, we provide a single report that includes information on both carrier status and genetic health risk.

  • Wellness Reports - 5+ reports including: Deep Sleep, Lactose Intolerance, Genetic Weight

VIP Health + Ancestry Service $499

  • Includes Health + Ancestry Service and following

  • Priority lab processing - Once your kit arrives at our lab, it’s bumped to the front of the line every step of the way.

  • Premium Customer Support - Get 1 year of complimentary direct access to our premium support line, staffed by one of our trained experts.

  • 1-on-1 ancestry results walkthrough - Once your results are in, you can call our premium support line and one of our trained experts will give you a personalized walkthrough of your ancestry results.

Tracking Timeline

  • In January,2020 Silicon Valley-based 23andMe laid off 100 employees, about 14% of its workforce.

  • Q1'2020 FDA Penalizes 23andMe for over-promoting medical value


23andMe CEO, Anne Wojcicki

The company has raised more than $780 million in venture capital from Alphabet and many backers.

Genotyping CHEAP Technology and Timeline

23andMe has gone back and forth over the years about offering more extensive genetic testing technology.

The company’s CHEAP at-home ancestry and health tests involve a type of analysis called “genotyping,” which looks at specific places in the DNA where there’s important data.

  • 2016 decided to focus on growth/mass market - probably because its high stakes VC investment required a massive growth spurt to justify investments
  • 2018 polled its users suggesting a $750 purchase point for high end tests - but no link provided - basically it devalued the $99 test - probably reducing sales as saying WTF these $99 tests are not good enough!
  • 2020 Q2 - laid off employees as demand for low cost tests seemed to have run out of early adopters

Full Sequencing Technology under $1000 possible

In contrast, sequencing involves determining the sequence of a length of DNA, whether it’s a short piece or the whole thing -- approximately 3 billion base pairs. Sequencing provides a lot more potentially useful data about human health. But it’s more expensive, putting it out of reach for many consumers, and scientists are still learning whether much of the data is relevant or actionable.

Genomics Infra and Sequencing - Other Companies and Equipment Suppliers

Illumina - Major Sequencing Equipment Supplier

CEO Francis DeSouza

Illumina, maker of the DNA sequencing machines that are used by Ancestry and 23andMe,

  • Aug 2019 Illumina acknowledged in an earnings call to investors that the genetic testing category had hit a lull.

LunaDNA and Luna Coin

Color Genomics

  • offers health tests, including an assessment of cancer risk.

Veritas Genetics - High End Sequencing

If 23andMe were to offer a premium service, it would compete with start-ups like Veritas Genetics. Veritas sells its whole genome sequencing test for $1000 and up, depending on whether the user wants to purchase additional reports and analysis

Othram - High End Sequencing but MEDICAL APPLICATIONS

“The ancestry market is a finite market,” said David Mittelman, CEO of Othram, a genomics start-up and a molecular physicist. A decade or so in, “these companies are beginning to tap out the market.”


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