Archive for the ‘Genetic Testing’ Category

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The "Global Hematologic Malignancies Testing Market: Focus on Product, Disease, Technology, End User, Region/Country Data and Competitive Landscape - Analysis and Forecast, 2019-2025" report has been added to ResearchAndMarkets.com's offering.

Key Questions Answered in this Report:

Global Hematologic Malignancies Testing Market Forecast, 2019-2025

The hematologic malignancies testing market growth has been primarily attributed to the major drivers in this market such as rising incidence of hematologic malignancies, increasing adoption of inorganic growth strategies in the market, favorable reimbursement scenario in the global hematologic malignancies testing market, and increasing funding in hematologic malignancies testing market. However, there are significant challenges that are restraining the market growth. These challenges include high pricing pressure, lack of trained professionals, and issues pertaining to the analytical validity of genetic testing for cancers.

Scope of the Market Intelligence on Hematologic Malignancies Testing Market

The hematologic malignancies testing market report provides a holistic view of the market in terms of various factors influencing it, including product optimization, and technological advancements.

The scope of this report is centered upon conducting a detailed study of the products and manufacturers allied with the market. In addition, the study also includes exhaustive information on the unmet needs, perception of the new products, competitive landscape, market share of leading manufacturers, the growth potential of each underlying sub-segment, and company, as well as other vital information with respect to global hematologic malignancies testing market.

Key Topics Covered:

Executive Summary

1 Market Overview

1.1 Introduction

1.2 Historical Perspective

1.3 Types of Hematologic Malignancy Diagnostic Tests

1.4 Global Footprint

1.5 Trends and Future Potential

2 Market Dynamics

2.1 Market Drivers

2.1.1 Rising Incidence of Hematologic Malignancies

2.1.2 Increasing Adoption of Inorganic Growth Strategies in the Market

2.1.3 Favorable Reimbursement Scenario in the Global Hematologic Malignancies Testing Market

2.1.4 Increase in Funding in Hematologic Malignancies Testing Market

2.2 Restraints

2.2.1 High Pricing Pressure

2.2.2 Lack of Trained Professionals

2.2.3 Issues Pertaining to the Analytical Validity of Genetic Testing for Cancers

2.3 Market Opportunities

2.3.1 Opportunities in the Emerging Economies

2.3.2 Technological Advancements in the Field of Molecular Diagnostics

3 Competitive Landscape

3.1 Key Strategies and Developments

3.2 Product Scenario

3.3 Funding Scenario

3.4 Market Share Analysis

3.5 Growth Share Analysis (Opportunity Mapping)

3.6 Comprehensive Competitive Index

4 Industry Insights

4.1 Regulatory Framework

4.1.1 Legal Requirements and Framework in the U.S.

4.1.2 Legal Requirements and Framework in Europe

4.1.3 Legal Requirements and Framework in Asia-Pacific

4.1.3.1 Japan

4.1.3.2 China

4.2 Reimbursement Scenario

4.3 Physicians' Perceptions

5 Global Hematologic Malignancies Testing Market (by Product)

5.1 Services

5.2 Kits

5.2.1 Gene Panels

5.2.2 Molecular Clonality Testing

5.2.3 Translocation Testing

5.2.4 Mutation Testing

5.2.5 Minimal Residual Disease (MRD) Testing

6 Global Hematologic Malignancies Testing Market (by Disease)

6.1 Leukemia

6.2 Lymphoma

6.3 Multiple Myeloma

6.4 Myeloproliferative Neoplasms

6.5 Myelodysplastic Syndromes

7 Global Hematologic Malignancies Testing Market (by Technology)

7.1 Next-Generation Sequencing (NGS)

7.2 Polymerase Chain Reaction (PCR)

7.3 Fluorescence in Situ Hybridization (FISH)

7.4 Immunohistochemistry (IHC)

7.5 Flow Cytometry

7.6 Other Technologies

8 Global Hematologic Malignancies Testing Market (by End User)

8.1 Specialty Clinics and Hospitals

8.2 Diagnostic Laboratories

8.3 Reference Laboratories

8.4 Research Institutions

9 Global Hematologic Malignancies Testing Market (by Region)

10 Company Profiles

For more information about this report visit https://www.researchandmarkets.com/r/polq31

View source version on businesswire.com: https://www.businesswire.com/news/home/20191204005431/en/

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Global Hematologic Malignancies Testing Market to 2025: Focus on Product, Disease, Technology, End User, Region/Country Data and Competitive Landscape...

Global Genetic Testing Market, Insights, Size, Share, Growth Rate, Revenue, SWOT Analysis, Applications, Industry Demand, Forecast, Potential, Type, Key Companies.

The report forecast global Genetic Testing market to grow to reach xxx Million USD in 2019 with a CAGR of xx% during the period 2020-2024.

The report offers detailed coverage of Genetic Testing industry and main market trends. The market research includes historical and forecast market data, demand, application details, price trends, and company shares of the leading Genetic Testing by geography. The report splits the market size, by volume and value, on the basis of application type and geography.

Get a free sample report: https://martresearch.com/contact/request-sample/2/36846

Genetic Testing Product Type Coverage (Market Size & Forecast, Major Company of Product Type etc.):

Newborn Screening

Diagnostic Testing

Carrier Testing

Preimplantation Genetic Diagnosis

Prenatal Diagnosis

Predictive and Presymptomatic Testing

Pharmacogenomics

Genetic Testing Company Coverage (Sales Revenue, Price, Gross Margin, Main Products etc.):

GeneDx

Invitae

Pathway Genomics

Counsyl Inc

Asper Biotech

GenePlanet

Courtagen Life Sciences

Gene By Gene

Natera Inc

Regulatory

GeneTests

United Gene

HI Gene

Berry Genomics

23andMe Inc

360Jiyin

Novogene

CapitalBio

Agen

Biomedlab

Biomarker

Annoroad

Aiyin Gene

Aijiyin

Repconex

Find Bio-Tech

SinoGenoMax

Gene Kang

Geeppine

BGI

Genetic Testing Application Coverage (Market Size & Forecast, Different Demand Market by Region, Main Consumer Profile etc.):

Cardiology

Dermatology

Hematology

Hereditary Cancer

Immunology

Metabolic Disorders and Newborn Screening

Neurology

Ophthalmology

Pediatric Genetics

Others

Genetic Testing Region Coverage (Regional Production, Demand & Forecast by Countries etc.):

Place the Order of Global Genetic Testing Market Research Report: https://martresearch.com/paymentform/2/36846/Single_User

Some Points from Table of Contents:

Chapter 1 Market Overview

1 Industry Overview

1.1 Genetic Testing Industry

1.1.1 Overview

1.1.2 Development of Genetic Testing

1.2 Market Segment

1.2.1 Upstream

1.2.2 Downstream

1.3 Cost Analysis

2 Industry Environment (PEST Analysis)

2.1 Policy

2.2 Economics

2.3 Sociology

2.4 Technology

3 Genetic Testing Market by Type

4 Major Companies List

5 Market Competition

5.1 Company Competition

5.2 Regional Market by Company

6 Demand by End Market

6.1 Demand Situation

6.1.1 Demand in Residential

6.1.2 Demand in Industrial and Agriculture

6.1.3 Demand in Commercial

6.1.4 Demand in Others

6.2 Regional Demand Comparison

6.3 Demand Forecast

7 Region Operation

8 Marketing & Price

8.1 Price and Margin

8.1.1 Price Trends

8.1.2 Factors of Price Change

8.1.3 Manufacturers Gross Margin Analysis

8.2 Marketing Channel

9 Research Conclusion

For more Information or Any Query Visit: https://martresearch.com/contact/enquiry/2/36846

Table and Figures

Table Type of Genetic Testing

Table Application of Genetic Testing

Table Google Inc. Overview List

Table Genetic Testing Business Operation of Google Inc. (Sales Revenue, Sales Volume, Price, Cost, Gross Margin)

Table Delphi Automotive Overview List

Table Genetic Testing Business Operation of Delphi Automotive (Sales Revenue, Sales Volume, Price, Cost, Gross Margin)

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Global Genetic Testing Market Size, Share, Analysis, Applications, Sale, Growth Insight, Trends, Leaders, Services and Forecast to 2024 - Eastlake...

Why am I having genetic testing?

You may be having genetic testing because:

Some people with an inherited heart conditionwont have any signs or symptoms. Genetic testing can help doctors assess whether you should be monitored or if you should start any treatment.

Inherited conditions which can affect your heart, include:

Youll usually attend a specialist inherited heart conditions clinic before you have genetic testing. While youre there, healthcare professionals will talk to you about your medical and family history.

They may carry out some routine tests to check for signs of an IHC. This is called screening. These tests include:

Depending on the results of your screening, you may then be offered genetic testing. This is a DNA test thats carried out if youre suspected to have a faulty gene which can cause an inherited heart condition. This test may be:

You should only have a genetic test after discussing it with a specialist. This is to make sure youre happy for the test to be done, the right tests take place and the results are interpreted correctly. Your specialist will also be able to support you and answer any questions you have.

Before the genetic test takes place, youll speak to a specialist and may be referred for genetic counselling. This is a chance to ask questions, understand more about the process and decide whether you wish to go ahead with testing. It may involve:

Even if a faulty gene is found, this doesnt always mean youll develop an inherited heart condition. Your doctor will monitor you for any signs of the condition and youll receive treatment if you need it.

In some people its not possible to find the faulty gene. If it cant be found, it doesnt necessarily mean that its not there and you may still be at risk of developing the condition. The specialists will discuss this with you, and they may continue to monitor you, if necessary.

Our Genetic Information Service (GIS) helplinehas qualified cardiac nurses who can provide you with information and support on inherited heart conditions.

Some tests can take months while others may take a few weeks. This is because some genetic faults can take longer to detect than others. Your healthcare professional will tell you when to expect your results.

If youve been diagnosed with an inherited heart condition or if youre found to have a faulty gene which can cause one your specialist will talk to you about close family members who may benefit from testing. The process of rolling out genetic testing through families is called cascade testing.

Any of your children will have a 50:50 (or 1 in 2) chance of inheriting the same faulty gene that you have. However, this doesnt necessarily mean theyll develop the condition.

If a close family member has the gene fault or has been diagnosed with an inherited heart condition, you should be referred to a specialist clinic for an assessment and to discuss having genetic testing.

Close family members, or immediate family, are your parents, siblings or children.

If a genetic test shows you dont have the same gene fault you wont develop the condition. You also cant pass it onto your children.

If you have the same faulty gene but dont have any signs or symptoms of the condition, youll be monitored in case you develop it in the future.

It can be very worrying if you think you may have, or develop an inherited heart condition, and there are lots of questions you might have, such as:

Speak to a specially-trained nurse on our Genetic Information Service (GIS) helpline who can provide you with information and support.

Order or download our publications:

Continued here:
Genetic testing - How it works and who it's for - British Heart Foundation

MEDIA CONTACT

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Feature

MEDICINE

Newswise By Dani Kupperman, Genetic Counselor at Danbury Hospital, Jessica Lipschutz, Genetic Counselor at Norwalk Hospital, and Susan Ingram, Genetic Counselor at Norwalk Hospital

Summary:

At-home genetic testing kits, also known as direct-to-consumer or lab-to-consumer DNA tests, are growing in popularity especially as holiday gifts.

Most people are aware that at-home genetic testing kits can be used to provide information about their ancestry and family history. Due to advances in genetic testing technology and the availability of lower-cost genetic tests, some at-home genetic testing companies are now also offering health-related genetic testing services. These services can provide information about gene mutations that may put you or a family member at a higher risk of developing an inherited condition such as cancer.

Although these at-home genetic tests may provide information about your health and family history, as well as a dose of highly personalized holiday fun, there are a few things that you should know before you purchase a kit as a gift or send in your own DNA sample.

What are at-home genetic tests and how do they work?

At-home genetic tests are kits that use a sample of your cells to look for changes in your DNA called gene mutations, as well as information on ancestry or paternity. The kit provides tools and instructions for collecting a sample of your saliva, blood, or cells, usually from a swab of the inside of your cheek. You then send your sample to a laboratory (lab) for testing.

Are at-home genetic test results complete?

Although at-home genetic test results are usually accurate, they will likely be incomplete. Thats because at-home genetic tests only test for a few specific gene mutations. The limited scope of at-home genetic tests means that the results may not provide a complete picture of your risk for developing certain medical conditions.

For example, at-home genetic testing providers typically only test for three BRCA gene mutations that are linked to an increased risk of breast cancer, as well as other cancers. These three gene mutations are most common in people of Ashkenazi Jewish descent. For people in the general population who are not of Ashkenazi Jewish descent, the test may not capture other specific BRCA gene mutations that are linked to breast cancer risk. That means that it is possible for someone who receives a BRCA-negative result from an at-home genetic test to still be at an increased risk of developing breast cancer and possibly other cancers.

Are at-home genetic test results easy to understand?

The terminology used in at-home genetic test results can sometimes be confusing for consumers. For example, if the test results show a variant or clinically significant mutation, a consumer might not realize that they could be at increased risk of developing an inherited health condition.

What is the difference between at-home genetic test results and genetic test results provided by a certified genetic counselor?

Most people arent aware that at-home genetic tests do not provide a comprehensive genetic analysis. In contrast, genetic counselors carefully review your family history and coordinate whole gene sequencing, which looks for any mutation that may be associated with an increased risk of certain inherited diseases.

It may help to think of genetic testing like a book at-home DNA tests look at one word on one page, while professional genetic counselors read the entire book. Dani Kupperman, Genetic Counselor, Danbury Hospital

Further, genetic counselors can now perform genetic tests on a large number of genes on a single panel, resulting in more efficient, comprehensive genetic testing when compared to the less-extensive tests that were available years ago.

Related article: This Thanksgiving, Talk Turkey About Family Health History

Do at-home genetic test results need to be validated?

Due to the limitations of the tests and the terminology used in the results, the National Society of Genetic Counselors and the at-home genetic testing manufacturers themselves recommend that all at-home genetic test results be reviewed in a clinical setting by a certified genetic counselor or physician and confirmed by another CLIA-certified genetic laboratory (lab) before being used for healthcare decision-making.

Plus, although at-home DNA test companies have CLIA-certified genetic labs, these labs do not specialize in cancer genetic testing. This is another reason why consumers should validate their at-home DNA test results with a certified genetic counselor.

At Nuvance Health, our genetic counselors often see patients who have done at-home genetic tests and want to verify their positive or negative results for BRCA and other gene mutations. Our genetic counselors can assess the at-home genetic test results, perform additional testing for verification, and work with each patient and his or her physician to develop a proactive health management plan based on the most accurate and complete information.

Are at-home genetic test results private?

At-home genetic testing services usually allow consumers to choose how much information to share and who they would like to share it with. However, at-home genetic testing providers may not be held to the same privacy standards as healthcare providers.

At Nuvance Health, we have policies and processes in place to protect your privacy, including what information is revealed from your genetic testing results and who has access to your information.

What should I consider before doing an at-home genetic test or giving one as a gift?

Although at-home genetic tests might seem like a fun idea for yourself, a friend, or a family member who might not otherwise seek genetic counseling, it is important to consider the risks, limitations, and psychological implications of DNA testing before you make a gift purchase or submit your DNA sample.

For example, it is possible for a genetic test to reveal unexpected information such as that your parents are not your biological parents or that you are at risk for a serious disease. Such unexpected news can understandably cause stress and anxiety, especially if it is not the right time in your life for you to learn these new facts.

Consumers who use at-home DNA tests may not fully understand or be prepared for the implications their results may have. At Nuvance Health, our genetic counselors work with patients before beginning the genetic testing process to help them weigh the pros and cons of genetic testing. We make sure our patients are emotionally and mentally prepared for the possible results, which can sometimes be upsetting and may lead to difficult decisions or conversations with loved ones.

Key takeaways about at-home genetic tests

At-home genetic tests can be fun and interesting, as well as provide people with the tools and empowerment they need to be proactive about their health. Before taking an at-home genetic test, it is essential to understand what you are getting into and make sure you really want to know the results. It is also critical that you make a plan to verify the results with trained professionals.

Related article: Genetic Testing Results Help Mom Be Proactive About Her Health

Read more from the original source:
What You Need to Know Before You Buy an At-Home Genetic Test - Newswise

Part one of our three-part PAST LIVES series on Jewish genealogical research. Parts two and three will be available next week.

Jennifer Ortiz has a screenshot saved on her computer. Its an image that captures a moment that changed her life.

Right there on the screen: Stewart Bloom is your father, she said, describing the message she received when she logged in to see the results of her home DNA test.

Ortiz is one of millions of people who have taken a DNA test like the ones sold by 23andMe or Ancestry.com. Ortiz, who grew up Catholic in Utah, found out from the test that she was 50 percent Ashkenazi Jewish a result that led to the discovery that she was the child of Bloom, a Jewish photographer in San Francisco, and not the man who raised her.

Thats when my world changed, she said.

But what is 50 percent Jewish?

The question itself is a new wrinkle in the age-old debate of just what it means to be Jewish, which has been given a kick in the pants from the commercialization of a field of science that says it can tell you something new: For a price, you can now choose from one of seven commercial genetic tests to find out just how Jewish you are (among other things).

Its a very interesting, different and complicated and morally ambiguous moment, said Steven Weitzman, director of the Katz Center for Advanced Judaic Studies at the University of Pennsylvania and former director of the Taube Center for Jewish Studies at Stanford University.

In the past few years, commercial gene testing has taken off, driven by aggressive advertising that purports to tell the real story behind your ancestry. The magazine MIT Technology Review analyzed available data to estimate that more than 26 million people had taken at-home tests since they first went on the market more than a decade ago.

Its really beginning to seep into peoples consciousness, Weitzman said.

Sunnyvale-based 23andMe and Ancestry.com, headquartered in Utah, will ask you to spit in a tube and then, several weeks later, will give you a pie chart that might say, for example, 20 percent Swedish, 8 percent Greek and 11 percent German. Or, perhaps, 39 percent Ashkenazi Jewish.

But is there such a thing as 39 percent Ashkenazi? Yes, according to professor of epidemiology and biostatistics Neil Risch, director of UCSFs Institute for Human Genetics.

Its very easy to identify someone whos Ashkenazi Jewish, said Risch, who also does research on population genetics for Kaiser Permanente Northern California.

Thats because there are genetic markers distinct to the Eastern European Jewish population, partly due to a population founder effect, a way of saying that they descend from a small number of ancestors. Also, Jews in Europe tended to marry other Jews, making them endogamous.

Jews were not allowed to intermarry, Risch said. He added that on top of that, there were other external factors; for centuries, Christian churches forbade their flock from marrying Jews.

Ashkenazi Jews share a genetic profile so distinct that even commercial tests can spot it, unlike the difference between, say, Italians and Spaniards, who share a more diffuse Southern European profile. Risch said that although commercial genetic tests will show a percentage of your heritage from very specific regions in Europe, these results should be taken with a grain of salt.

Those kinds of subtle differences are challenging and have to be looked at with some skepticism, Risch said.

I call it entertainment genetics, said Marcus Feldman, a Stanford biology professor and co-director of the universitys Center for Computational, Evolutionary and Human Genetics, when you go and find out where your ancestors came from.

But for Ashkenazi Jews, heritage is pretty clear. Pick a street, Feldman said. Then pick any two Ashkenazi Jews at random walking down it.

Theyd be fifth to ninth cousins at the genetic level, Feldman said. Ashkenazi Jews are actually that closely related, all descended from a small group of people.

But what about Sephardic Jews looking to get a quantitative peek at their heritage? Theyre out of luck. 23andMe communications coordinator Aushawna Collins said that the company hasnt collected enough data on those populations yet to be able to pinpoint what makes them unique in terms of genes. Risch said its because genetically they are not distinct enough from other Mediterranean peoples.

But even if science can determine whether people have Ashkenazi genes, can one extrapolate from that how Jewish they are?

What is 39 percent Jewish? Thats nonsense, said Weitzman, a former professor of Jewish culture and religion at Stanford, where in 2012 he started an interdisciplinary course on Jewish genetics with biology professor Noah Rosenberg. You cant be half Jewish. Youre either Jewish or not Jewish.

Rabbi Yehuda Ferris of Berkeley Chabad would agree.

You cant be part kosher, you cant be part pregnant, you cant be part Jewish, he said.

However, even Ferris and his wife, Miriam, have done at-home DNA tests although they did it to find relatives, not to figure out their Jewishness.

It was extremely shocking, Ferris said dryly. Im 100 percent Ashkenazi Jewish and shes 99 percent.

For zero dollars we could have told you the same thing, Miriam Ferris added.

As an Orthodox rabbi, Ferris goes not by percentages but by the matrilineal rule in establishing Jewishness.

If your mother is Jewish, youre Jewish, he said. Thats it.

The concept of matrilineal descent is an old one, but genetics are giving it a new twist, especially in Israel where the Chief Rabbinate has used gene testing to weigh in on the crucial question of who is a Jew. (In Israel, immigrants must prove their Jewish status to marry, be buried in a Jewish cemetery or undergo other Jewish life-cycle rituals.)

Thats an interesting and disturbing new phenomenon, Weitzman said.

The way the rabbinate has used gene testing is by examining mitochondrial DNA, which gives much less information than testing of the more extensive DNA in the cell nucleus, which is what home tests do. But unlike nuclear DNA, mitochondrial DNA is almost always passed from mothers to their children. This dovetails nicely with the notion of matrilineal Jewish descent, and rabbis in Israel have now begun accepting mitochondrial DNA testing for people, primarily immigrants or children of immigrants from the former Soviet Union, who have inadequate documentation of their Jewish status.

The test can identify Jews descended from four founder women ancestors. However, it can be used only to prove a positive, as half of Ashkenazi Jews dont have the characteristic mitochondrial chromosomes at all. Still, for people who have no paper or eyewitness proof of Jewish descent, genetic testing can be the deciding factor.

When you dont have enough information, it might be the linchpin, Ferris commented.

The rabbinates use of mitochondrial DNA testing is controversial, with some critics calling it humiliating. The Yisrael Beiteinu party, which represents Russian-speaking immigrants, is trying to challenge it in Israels Supreme Court.

Outside of Israel, too, not everyone is comfortable with using science to figure out who is a Jew. Its something the world has seen before.

People were also using science to figure out who people were. We called that race science, Weitzman said.

And the people who did it?

I mean Nazis, he clarified.

Genetics have been used against Jews in the most virulent way, said UCSFs Risch. But he thinks that Jews are inclined right now to trust the science because its a field filled with Jewish researchers. We love science because were all the scientists! he said.

In the past two decades, there has been a rash of research on the genetic components of Judaism, a boom coinciding with the Human Genome Project, which ran from 1990 to 2003. Much of it was done by Jewish scientists. The initial research on mitochondrial DNA in Ashkenazi Jews was done in 2006 by Israeli geneticist Doron Behar; he is now CEO of genetic analysis company Igentify.

In 1997, a study of traits in the Y chromosome, passed only from father to son, found that more than 50 percent of men with the last name Cohen (or Kahan or Kahn or other variants) had a certain marker, giving some support to the idea of a hereditary Jewish priesthood.

In 2010, medical geneticist Harry Ostrer did work that found various communities of Jews shared a common Middle East ancestry. And in 2009, Feldman, who is also director of Stanfords Morrison Institute for Population Biology and Resource Studies, studied to what degree Jewish groups in different places were related. (This last topic has been studied further, including by Risch.)

But Feldman himself has experienced firsthand how his own research has been twisted for what he called racist conclusions when economists drew inferences from his work with fellow Stanford professor Rosenberg to suggest theres a genetic basis for economic success.

We were outraged because those two people were using our data to make these quite racist statements, Feldman said.

Feldman said its common for the public to seize on genome research and try to use it to explain everything from intelligence to criminality; he said scientists have a responsibility to be on alert all the time.

Theres been too much emphasis on the genetic basis of a lot of human behaviors, he said. When genetics is your hammer, everything becomes a nail, he said. So it doesnt matter what human trait youre interested in.

Even if geneticists like Feldman consider home testing kits entertainment, their popularity shows that people are interested in using genetics to figure out who they are, including how Jewish. Weitzman said it might be connected to how hard it is for most Ashkenazi Jews in this country to trace their roots; Jews in Central and Eastern Europe didnt have last names until the 18th or 19th centuries.

A lot of us, we dont know a lot about our ancestors prior to our grandparents, Weitzman said.

So in searching for ancestors, people are turning to the companies that promise results. 23andMes Collins told J. theyd sold 10 million kits in total, and Ancestry.com in May issued an announcement claiming to have tested more than 15 million people.

Cantor Doron Shapira of Peninsula Sinai Congregation in Foster City is one of them. He was always into Sephardic music and food. As a percussionist, he felt drawn to the rhythms.

People have very often asked me, Are you Sephardic? he said. And I always said, Not to my knowledge.

Last year he saw an ad for Ancestry.com, got his DNA testing kit and sent it in with his sample.

It comes back 94 percent no surprise Russian Ashkenazi Jewish European roots, he said.

But the test also revealed 6 percent of his roots were other, including from Southern Europe and the Iberian Peninsula. Maybe Shapira had a Sephardic ancestor after all?

He started to think about which side of the family it could be and considered asking his mom to get tested. It wasnt that the result suggesting a Sephardic ancestor changed his perception of who he was, he said, but it validated something about himself that he and others had always noticed.

I got a little bit excited, he admitted.

And then he got an email update from Ancestry.com.

It says, scratch that, youre now 100 percent Ashkenazi Jewish, he said with a laugh.

But even with the change in result, Shapira says hes not against using home genetic testing to get a peek into his ancestry.

Im inclined to do another one, he said. Just to see if its consistent.

Many others are taking the tests and their results very seriously. People are making life decisions now on the results of this test, Weitzman said. Theyre deciding whether theyre Jewish or not.

Thats what Ortiz has done. If you ask her now if shes Jewish, the 53-year-old has an answer.

Yes, I am, she said. Ill say yes.

She had never been told that the father who raised her was not her biological dad, and when she confronted her parents, they denied it. But she knew it was no mistake when the DNA testing company delivered a startling message with the name of her biological father thats the screenshot shes got saved on her computer.

Ortiz immediately made contact with Stewart Bloom and flew down to San Francisco last year from her home in Portland to visit. There was a lot to process, of course, but for Ortiz its been a wonderful thing and that includes embracing Jewishness, something she said shed always been drawn to.

When I found out Im actually 50 percent, on one level it didnt surprise me, she said.

Now shes converting that number into something deeper: Shes planning a ceremony in Portland with a Jewish Renewal rabbi not a conversion, but something to celebrate her new identity.

It would help me take a step into Judaism, she said. Not just from a biological level but a little more than that.

Thinking about Jewishness in terms of biology is something that bothers Emma Gonzalez-Lesser, a Ph.D. candidate at the University of Connecticut and the author of an article titled Bio-logics of Jewishness. If being Jewish is something in the genes, then that excludes people who have come to Judaism in other ways.

People who convert may not be seen as legitimately Jewish as someone who has 30-something percent ancestry from a genetic test, she said.

And beyond that, she added, there are some ideas underlying the current fascination with genetics that arent being questioned, like the question of whether Jews are a race.

I think part of our societal fascination with genetic testing really rests on this assumption that race is really this biological function, she said.

(Prominent researchers like Feldman, Rosenberg and Risch have been caught up in the sensitive question of whether studying the genomics of populations leads to a biological definition of race; the issue has been written about at length and remains controversial.)

Weitzman said the interest in ancestry reflects a trend around the world of turning to biology, genetics and race as a way to encode identity.

Part of whats going on in the Jewish world right now is a reflection of a broader revival of ethno-nationalism, Weitzman said.

In addition, at a time when American Jews are less likely to go to synagogue or practice rituals in the home, they face more questions about what it means to be Jewish. That may incline them to trust in science to determine their identity, especially when they have only a few dusty boxes of papers, if that, to show their family history. That makes Jewish genes a door into the past.

Theres something hiding inside of you that is preserving your identity intact, Weitzman said. To me, thats part of the appeal.

Read more here:
Who is a Jew? DNA home testing adds new wrinkle to age-old debate - The Jewish News of Northern California

Country doctor James DeLine talks about his work with the Amish

In 33 years at the La Farge clinic, Dr. James DeLine has gained the trust of many Amish. He understands their beliefs and their financial limitations, and he leaves the medical decisions to the families.

Mark Hoffman, Milwaukee Journal Sentinel

MILWAUKEE, Wis.It is 5 degrees below zeroand a light powdering ofsnow swirls across the roads of Vernon County.Afew horses and buggies clop through the chillmorningair, but Perry Hochstetler leaves his buggy at the family farmand has a driver take him to his doctors appointment.

TheHochstetlersare Amish. With no health insuranceanda modest income, they cannot afford most doctors.

They can afford James DeLine, once the lone doctor in the western Wisconsin village of LaFarge. Population 750.

When he became the village doctor in 1983, DeLine had no experience treating the Amish and no idea the crucial role they would play in his work. Today, about 20% of the doctors patients are Amish or Old Order Mennonite, part of a Christian population called Plain People. They are known for their separation from the modern world and adherence to a simple lifestyle and unadorned dress.

Something of a throwback himself,DeLine, 65, is a short,bespectacledman with a walrus mustache, a doctor who carries a brown medical bag to house calls. For years, he carried his equipment in a fishing tackle box.

He knows the families on every local farm and their medical histories. He knows whos beenborn,andcalls on the mothers and infants to make sure they are healthy. He knows whos dying, and looks in on them in their final days, sitting by their bedside, talking in a gentle voice, making sure they have what they need for pain.

Amish farms are clustered together along Highway D between Cashton and La Farge.Mark Hoffman / Milwaukee Journal Sentinel

As a young doctor,DeLine never imagined he would find himselfsomedaywith one foot planted solidly in medicines past, the other in its future.

The doctor who makes housecallsalso collaborates with English and American geneticists studying some of the rarest diseases on Earth. Some occur at much higher levels among the Amish, Mennonites and other closed communities that dont allow marriage to outsiders. This prohibition increases the likelihood that when a rare, disease-causing mutation appears in the community, it will take root and pass from generation to generation.

It has taken DeLine and his staff years to gain the trust of Plain People, some of whom are wary of medicine and technology.Often,theyfear that going to a hospital or clinic will mean surrendering the decision-making to doctors who neither respect their beliefsnor understand their financial limitations.

DeLine, not a religious man himself, accommodates the beliefs of patients and parents; he has always viewed them as the ultimate decision-makers.

At first glance, Hochstetler seems an unlikely candidate for a rare disease or a health problem of any kind. Work at the local sawmill and his family farm has given the 26-year-old father of two a lean muscular frame. Beneath the skin lies another story.

He has the vasculature of an 80-year-old smoker,DeLinesays.

He inherited the genetic mutation that causes an illness most people have never heard of: sitosterolemia. Only 100 cases have been described in the medical literature, but DeLine has 13 patients with the condition, including four of Hochstetlers 10 siblings and their father.

The disease prevents the body from getting rid of lipids from vegetable oils and nuts, causing them to build up and clog the arteries.

Since diagnosing the disease,DeLinehas treated Hochstetler with a cholesterol-lowering drug called Zetia.

Without diagnosis and treatment,Hochstetlercould by now havesuffereda heart attack, a trauma that Zetia should delay, thoughfor how long isuncertain. There is no cure for sitosterolemia.

Im not afraid, he says. If I die young, I guess Im going to die young. I cant do much about it. I cant say I ever get low and have the blues about it.

Saving grace: The story of an Amish community and the fight for their children's lives

A blizzard almost kept the doctor and village from their appointment.

It was February 1983. DeLine drovehis familyover hilly country roads, staring out the windshield into flurries and fearingtheir carmight not makeit to LaFarge.

DeLinehad just completed his residency at the Wausau Hospital Center. Now, a10-membercommitteeof localswas recruiting him to fill LaFargesvacancy for a doctor. Thevillage had beenwithout one for a couple ofyears.

The doctor liked the friendly villagers, a welcome change from the suit-and-tie types hed interviewed with in other places.

He was 28 years oldwith a bad car, a growing family and $30,000 in unpaid student loans. The average salary for a family doctor in America was then around $80,000, enough to settle down and beginpaying offhis debt.

But the people of LaFargewantedDeLine needed him. Their offer: $20,000.

That would have to coverDeLinesannual salary, the salary of an assistant to answer the phones and handle billing, plus all the clinic equipment andexpenses. .

DeLine took the offer.

The photo of country doctor Ernest Guy Ceriani, made famous in a groundbreaking Life Magazine photo essay by W. Eugene Smith, hangs on James DeLine's refrigerator door at his home in La Farge.Mark Hoffman / Milwaukee Journal Sentinel

DeLinegrew up in New Lenox, Illinois, a farming community outside Joliet.

The village of 1,750 was mostly cornfields. DeLine remembers it asthe kind of place where children grew up building forts during the day and watching bonfires at night. DeLine had twin sisters five years younger than him. Their father owned a restaurant.

From an early age, though, itjust seemed like Id be going to medical school. It was meant to be.

DeLineremembers nights when he could hear his mother struggling to breathe. He could hear his father, too, trying to persuade her to go to the hospital.

She had rheumatic heart disease and took blood thinners starting in her 30s. She sometimes joked about needing a valve job.

DeLinewas 17 when his mother went in for the procedure.

He saw her once after surgerybut I didnt like how she looked.About the third day, his mother suffered cardiac arrest. She was resuscitated but had sustained a severe brain injury. Days later, the family shut off life support. She was 42.

One week after her death, JamesDeLineset out to become a doctor,leavinghome for the University of Illinois in Urbana-Champaign.

Physician James DeLine eases into his work day starting at 5 a.m. at his home in La Farge.Mark Hoffman / Milwaukee Journal Sentinel

University life was hard.DeLineremained so miredin grief that when he ate, he suffered terrible abdominal pain and had to lie on his stomach for relief.

Still, he took on a demanding schedule.Driven students tended to enter the more advanced honors program in either chemistry orbiology. DeLine, a physiology major, enrolled in both.

He paid for college through restaurant jobs and financial aid.

He went on to medical school, first in Champaign, then at the University of Illinois campus in Chicago. He lived in the citys Little Italysection on the nearwestside. There he met his future wife, Ann Doherty, who worked in a print shop.

DeLinegraduated from medical school on June 7, 1980. The next day, he and Ann married.

A week later, he started his residency in Wausau.

He would work a 24-hour shift, take 24 hours off, then head back for another 24 hours at the hospital. By the time Id stagger home for some rest, he says, I was sleep-deprived, hungry, with a headache.

The schedule bothered his wife. She missed him.In his next job, she would see even less of him.

Physician James DeLine checks on Dean Pease at Vernon Memorial Healthcare in Viroqua. Pease was admitted to the hospital for breathing difficulties.Mark Hoffman / Milwaukee Journal Sentinel

In LaFarge,DeLineworked harder than he had in his residency.

He was on call 24 hours a day, seven days a week. To make ends meet, both for his family and the clinic,DeLineworked five shifts a month in the emergency room at Vernon Memorial Hospital in Viroqua.

Some days he would work 9 a.m. to 5 p.m. at the clinic, then drive to the hospital and work 6 p.m. to 8 a.m. in the emergency room. He would return to the familys home just in time to shower and get to the clinic by 9.

There were times when he was tired, but it didnt slow him down, Marcia Bader, his now-retired office managersays. It was that deep-seated caring that kept him going.

After a morning of driving around visiting patients, physician James DeLine, right, updates the staff at his clinic.Mark Hoffman / Milwaukee Journal Sentinel

It was his wife,AnnDeLine, too.

The woman who had dreamed of being a mother did everything for the couples four children, all born within a five-year span. She washed cloth diapers and hung them out to dry. Shecooked, cleaned, took the children for walks, helped with school and play, and accepted with grace all the times when her husband was called away from holidays and birthday parties.

"The calendar of holidays does not apply," she says. "He helps people when they need him like the volunteer fireman races off when the alarm sounds; like the farmer plants and harvests when the ground and weather are ready."

"Life is lived by needs, not calendars and time slots."

This drawing is a gift from an Amish patient. James DeLine keeps it on his desk at home.Mark Hoffman / Milwaukee Journal Sentinel

Villagers embraced their doctor. Patients said they were accustomed to physicians who talked at them most of the time;DeLinelistened.

The clinic struggled financially in the early years. Not everybody paid their bills, Bader recalls. But the doctor wasnt going to send them to collection firms, and he wasnt going to stop caring for them.

The doctor and his wife became fixtures ofcommunitylife. They went to their childrens cross country meets and other school events. They attended the annual Kickapoo Valley Reserve Winter Festival.

But it was his presence in the homes of area residents that endeared him to them.

My father was diagnosed with colon cancer in 1994. The thing that always struck me was that Dr.DeLinestopped in to see my mom and dad one night after a basketball game, recalls Bonnie Howell-Sherman, editor and publisher of the weekly Epitaph-News in nearby Viola.

That was just unheard of. My mom is going through dementia now and out of all of the people shes met since shes been here, hes the one she remembers.

The villagers didnt just likeDeLine. They depended on him.

They worried about him, too.

Theres been two things about Dr.DeLinethat the whole community has been concerned about, Steinmetz said. One was, how do we keep him? The other was that hestayhealthy.

From time to time, rumors spread that the doctor was sick, even dying.

In 2007,DeLinehad noticed a problem. He would urinate, only to discover a short time later that he needed to go again.

It was prostate cancer.

Courtesy of the Viola Epitaph-News

Feeling, as he put it, reflective, maybe anxious too,DeLineapproached the Epitaph-News editor. He asked to write a series of columns for the newspaper describing his illness and treatment. He would counter the rumors with transparency. He called the column, From the Other Side.

I decided early on that I was comfortable sharing my experience with our community, he wrote in the first column. After all many of you have shared your concerns, fears and symptoms with me for nearly 25 years. Each of us knows that our turn must come for illness and eventually death.

He discussed his fears about surgery to remove his prostate Would I be able to jog again?He evensharedthe frustration of phoning to make a doctors appointment and going through endless computer prompts before reaching a live human voice.

His columns took readers through his surgery, recovery andreturn home.

The way the whole village shared the doctors illness and treatment, thats part of small-town life, explains Howell-Sherman, the newspaper editor.

Its been 12 years sinceDeLinessurgery. The cancer hasnot returned.

An Amish teen pulls farm machinery down a road in La Farge.Mark Hoffman / Milwaukee Journal Sentinel

Of all the relationships the doctor built in LaFarge, the most challenging involved his Amish patients.

DeLine found his medical work was affected by a deeply held principle among the Amish, expressed in the German wordgelassenheit, which means yielding oneself to a higher authority. Among the Amish, the word encompasses a calmness and patience, as well as a belief that individualism must take a back seatto the good of the community and the will of God.

A sign warns motorists they may encounter horse-drawn vehicles on Highway D between Cashton and La Farge.Mark Hoffman / Milwaukee Journal Sentinel

While some Amish visit hospitals and accept modern medical techniques, others prefer natural methods and traditional treatments: herbs, vitamins, supplements and home remedies. In the LaFargearea, it is not unusual for an Amish family to turn to these methods beforedecidingto see DeLine.

Such was the case with Abie and Edna Yoder when their 8-year-old daughter, Barbara, first grew sick in spring 2015.

The girl had little appetite and suffered from a terrible stomachache and bloody diarrhea. Barbara weighed 38 pounds 19 pounds below average for an 8-year-old.

The Yoders took her to a so-called non-traditional doctor used by some of the Amish; these tend to be herbalists, specialists in natural medicine and others, all of whom lack medical degrees.He viewed her blood under a microscope and told the family she might have colon cancer.

The parents worried terribly about their daughters survival, but worried too about putting her in the hands of a traditional doctor. The scenario that haunted them had happened to a 3-year-old Amish boy with leukemia. The boy was given chemotherapy, they say, despite the excruciating pain andultimate failureof the treatment.

He begged to be released to go to Jesus, Edna Yoder recalls.

The Yoders approached a midwife, whosent her husband to speak with DeLine. The husband explained to the doctor the circumstances and the familys hesitation. Then the Yoders brought their daughter.

"Dr.DeLinemade it really clear that he would respect our wishes,Edna Yoder recalls.

Their daughter was admitted to American Family Childrens Hospital in Madison.DeLineconsulted with a pediatric cardiologist hed worked with at UW, Amy Peterson.

Dr.DeLinehad noticed that she had interesting looking bumps on her arms and on her legs, Peterson recalls. They were deposits of cholesterol. Dr.DeLineand I started thinking along very similar lines very quickly.

Genetic testing confirmed their hunch. The girl had extremely rare sitosterolemia, the same illness that would later be diagnosed in Perry Hochstetler.

Treatment lowered the girls sitosterol levels and helped her gain weight.

DeLineand Peterson have since foundamong the local Amisha dozen othercases the second largest cluster of the disease in the world.

An Amish farmer makes his way to work on a fence along Highway D between Cashton and La Farge.Mark Hoffman / Milwaukee Journal Sentinel

Almost 200 diseases are found in much higher proportions among Plain People. Scientists have developed a special Amish genetics test that screens the blood for more than 120 of them.

DeLine has seen patients with more than 30of the diseases on the testand has at least two patients with diseases neverdescribed in medicine.

Across the globe, there have beenonly20 to 30 cases of a disease called BRAT1; DeLine has seen six. Babies with the illness are born rigid and are prone to frequent seizures.

When the baby is born you cant straighten the baby, DeLine says. The eyes are jerking, face twitching. Some moms say they have felt things that suggest the babies have been seizing in the womb.

Continue reading here:
In a Wisconsin village, the doctor makes house calls and sees the rarest diseases on Earth - USA TODAY

Testingpatients for certain pathogenic variants associated with increased cancer riskchanged the management of those patients, with patients almost always followingprovider recommendations for cancer screening, according to a recent study.

The studylooked at de-identified personal and family history data from 654 individualswith pathogenic variants in PALB2, ATM, CHEK2, NBN, BRIP1, RAD51C, and/orRAD51D. Data were analyzed to quantify pretest and posttest candidacyfor guideline-recommended management of cancer risk.

Amongpatients with CHEK2, ATM, PALB2, or NBN variants, only 24% wereappropriate for consideration of annual breast magnetic resonance imaging (MRI)prior to genetic testing. The remaining 76% were only deemed appropriatecandidates for MRI after testing.

Similarly,no patients with BRIP1, RAD51C, or RAD51D variants would havebeen considered candidates for risk-reducing salpingo-oophorectomy (RRSO) priorto undergoing genetic testing.

No consensus management recommendations exist for individuals at average risk or increased risk for ovarian cancer based on family history; therefore, no individuals were deemed appropriate candidates for consideration of RRSO based on family history, the researchers wrote. After testing, 100% of these individuals were appropriate candidates for RRSO.

Finally, onthe basis of personal or family history, only 17% of 309 individuals with CHEK2variants were considered appropriate for earlier and more frequent colonoscopyprior to genetic testing the remaining 83% were only considered appropriatecandidates after receiving genetic testing.

Read more here:
Testing for Genetic Variants Informed the Use of Cancer Risk Assessments - Cancer Therapy Advisor

Pennsylvania seniors, their families, friends, and caregivers are advised to watch out for a new scam in which a scammer offers "free" genetic testing covered through Medicare. The scammer will promise that the test is meant to help prevent disease or find the right medications in order to snatch a senior's personal Medicare information, which can lead to compromised financial information and more.

The Administration for Community Living suggests these tips to avoid getting scammed:

If you or someone you know has already received a genetic testing cheek swab or other screening that was not ordered by a trusted provider, or have any other concerns about possible fraud or scams, contact your local Senior Medicare Patrol through their website(under the "Medicare Fraud Complaints" heading) or call 1-877-808-2468.

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Department of Aging warns of new "genetic testing" scam - NorthcentralPa.com

captionLuxury Travel Magazine predicts that ancestry travel will be one of 2020s hottest travel trends.sourceXurxo Lobato/Getty Images

Over the past decade, millions of people have used genetics kits to identify their roots.

Since launching in 2007 and 2012, industry leaders 23andMe and AncestryDNA have gained 10 million and 15 million users respectively.

The process for consumers is a simple one: Spit into the kit tube, send it off in the mail, and within a few weeks, receive a detailed report on where your ancestors came from or in the case of 23andMe, genetic predispositions as well. The kits are also affordable: AncestryDNAs currently start at $59, and 23andMes start at $79.

The golden age of at-home DNA tests, however, may be nearing its end. Earlier this week, Business Insiders Lydia Ramsey reported that the demand for these sub-$100 tests is plateauing.

The fads over, Luke Sergott, an analyst at Evercore ISI, told Ramsey. Sergott noted that many people have taken the test and are looking for the next best thing. Concerns over privacy and ethics are two other reasons why sales may be slowing.

One trend that these DNA tests have spawned does not seem to be seeing the same slowdown: Ancestry tourism or traveling to the places where your family and ancestors lived has been on the rise, and its still gaining momentum.

Ancestry travel has experienced a boom over the past several years.

In fall 2017, Go Ahead Tours and Ancestry DNA partnered to offer customized heritage trips featuring hand-picked hotels and on-hand Ancestry genealogists. In 2018, luxury cruise ship operator Cunard launched its Journey of Genealogy series in collaboration AncestryDNA. The inaugural trip was a seven-night cruise from Southampton in the United Kingdom to New Yorks Ellis Island.

And in May, Airbnb announced a partnership with 23andMe in which the hospitality giant provides users with custom travel and experience recommendations.

DNA travel has become increasingly popular, Airbnb said in its announcement of the collaboration: Since 2014, the number of travelers using Airbnb for tracing their roots increased by 500 percent, and 78 percent of these trips are taken in pairs or solo, suggesting that these are introspective journeys or an important moment to share with a significant other.

Independent tour operators have also hopped on the ancestry travel bandwagon with new heritage-based tour offerings. Small-group adventure travel company Classic Journeys offers to match travelers with trips after reviewing their DNA results from23andMe, AncestryDNA or another provider. Luxury service The Conte Club designs travel experiences that can span weeks and cost as much as $132,000 based on DNA tests.

According to Luxury Travel Magazines travel predictions for the new decade, ancestry travel is one of 2020s fastest-growing sectors.

In May, Airbnb noted that travelers who have expressed the most interest in ancestry tourism are from places typically known for their history of immigration. These include the U.S., Canada, Australia, mainland China, the UK, France, Korea, New Zealand, Taiwan, and Brazil.

Ahead of the 75th anniversary of the end of World War II, a time when many Poles fled Eastern Europe, Poland is preparing for an uptick in ancestry travelers. Over a dozen new hotels, including a new branch of Robert De Niros Nobu Hotels, are set to open in Warsaw next year, Luxury Travel Magazine reports.

Cunard is looking ahead to another immigration anniversary: the quatercentenary of the Mayflower voyage. In August, the cruise ship operator will be offering a journey on the Queen Mary 2 that replicates the English Puritans journey to the New World.

While Airbnb says travelers between the ages of 60 and 90 are most likely to take heritage travel trips, the preference for ancestry travel may be skewing younger.

[Home DNA tests are] much more approachable to the younger generation than sitting in front of a computer screen or [microfilm reader] trying to do family history, Dallen Timothy, a professor at Arizona State University and editor of the Journal of Heritage Tourism told Business Destinations in April. This trend is likely broadening the genealogy tourism market by attracting younger generations.

Travelers are transitioning from looking for local experiences to seeking experiences that fundamentally change them, Chris Roche, business director of luxury safari company Wilderness Holdings, told Business Insiders Katie Warren.

Experiential wouldve been the buzzword five years ago, Roche said. The last couple of years, thats transitioned into transformational.'

This search for meaning is redefining the travel space, Warren noted, citing the Global Wellness Summits 2018 trends report.

Robin Hauck, director of Business Development and Partnerships with Go Ahead Tours, told NBC last winter that AncestryDNA had been hearing from an increasing number of customers that they wanted to bring the results of their kit to life. Its just so important for people to fill in in actual living color where theyre from and how their ancestors lived. It makes people feel more complete, he said.

Rebecca Fielding, CEO of The Conte Club, echoed Hauck in conversation with Conde Nast Traveller, noting that ancestry trips are a deep dive into ones identity.

It can be a complicated and emotional process, but the journey into our own past might be the most meaningful trip we can take, she said.

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The golden age of at-home genetic testing may be over but its still a critical part of one of the biggest trends in how people will be traveling in...

If youre going through IVF, you may be offered a test to look at your embryos chromosomes.

Pre-implantation genetic testing for aneuploidy (chromosome abnormalities), known as PGT-A, is an add on used to help choose embryos with the right number of chromosomes. Its promoted by IVF clinics as a way to increase the chance of success, especially for women over 35.

But the evidence shows that in most cases, PGT-A doesnt improve the chance of a baby.

Read more: The business of IVF: how human eggs went from simple cells to a valuable commodity

Human cells usually contain 46 chromosomes. Aneuploidy is a term that describes a chromosome number that is different from 46 either too many or too few chromosomes.

In human embryos, most aneuploidies are lethal, resulting in miscarriage, or do not result in pregnancy at all.

The chance of aneuploidy increases with the age of the woman; by the time a woman reaches age 40, approximately 80% of her embryos are aneuploid.

All couples produce some aneuploid embryos, whether they conceive naturally or with IVF. The idea behind PGT-A is that if the aneuploid embryos can be identified they can be discarded, so that only embryos capable of producing a healthy pregnancy are used.

PGT-A involves the woman having fertility drugs to produce several eggs. When they are mature, they are retrieved and mixed with sperm to create embryos.

Embryos are grown in the laboratory for five to six days. At this time, two types of cells are distinguishable: the cells that will develop into the placenta and the cells that will become the baby.

Read more: Considering using IVF to have a baby? Here's what you need to know

A few cells are removed from the future placenta for testing and the embryos are frozen until test results are available.

If the test shows there are normal embryos, one is thawed and transferred to the womans uterus. Any remaining normal embryos will be kept frozen for transfer later if the first transfer is unsuccessful.

Importantly, PGT-A doesnt correct chromosomally abnormal embryos, it simply allows couples to avoid transferring them.

Many clinics recommend PGT-A for women over 35 (more than half of women who have IVF) and those who have had repeated miscarriages or failed IVF treatments. This is because women over 35 and women with previous losses are more likely to produce aneuploid embryos.

While the theory behind PFT-A makes sense, randomised controlled trials (the gold standard evidence to tell us if an intervention makes a difference) have not demonstrated a clear benefit.

Of the two most recent trials of PGT-A, one reported fewer embryo transfers and fewer miscarriages in the PGT-A group but neither showed benefits in terms of improving the live-birth rate.

PGT-A actually has the potential to reduce the chance of a baby. It can do this in two ways.

First, PGT-A is not 100% accurate. This means that inevitably, some embryos that have the capacity to form a healthy baby will be discarded.

The most common reason for these false positive results is that a proportion of embryos are mosaic they have a mix of normal and abnormal cells. Surprisingly, mosaic chromosome abnormalities are quite common in early human embryos, and do not seem to prevent the embryo developing into a healthy baby.

However, if abnormal cells are removed and tested, the embryo will be misclassified as abnormal and discarded a lost opportunity for a healthy pregnancy.

Read more: Fertility miracle or fake news? Understanding which IVF 'add-ons' really work

Many healthy babies have been born to people who have elected to have mosaic embryos transferred because they were the only embryos they had.

In a recent study of 98 women who had mosaic embryos, 32 (33%) elected to have at least one transferred. Of these, 11 (34%) had a successful pregnancy with apparently healthy babies born.

Second, while the risk is small, embryos can be damaged in the biopsy procedure and some embryos dont survive the freezing and thawing process.

PGT-A costs around A$700 per embryo which adds up to A$2,800 if there are four embryos to test.

While doctors likely offer their patients detailed and individualised information about different treatment options, information about the possible benefits of PGT-A on clinic websites can be difficult to interpret.

Thats why independent information about the pros and cons of PGT-A is needed to help people make informed decisions. The Victorian Assisted Reproductive Treatment Authority (VARTA) has developed a downloadable resource about the current state of knowledge about PGT-A.

Some clinics are now offering a less invasive technique where, rather than removing cells from the embryo, they test the fluid that the embryo is grown in to determine if the embryo has the right number of chromosomes. Time will tell of this will improve the chance of having a baby with IVF.

In the meantime, it may help to ask the five questions recommended by Choosing Wisely:

And in the case of IVF: how will this improve my chance of a live birth?

Read more: Your questions answered on donor conception and IVF

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Genetic testing IVF embryos doesn't improve the chance of a baby - The Conversation AU

A mother and daughter shared a special Thanksgiving Thursday in western North Carolina. The two are crediting genetic testing for uniting them.Kristy Wilson was put up for adoption at birth. Her mother, Sandra Derr, didn't think she'd see her again."No, never," Derr said. But several decades years later they used 23 and Me, a genetic testing service. The two say a hit came back, signaling a possible mother-daughter match. "It was pretty scary, because you don't know what to expect," Wilson said.The two communicated after the match and met in April. Wilson lives in Black Mountain, North Carolina while Derr lives in Delaware. "It was unreal, really, I just knew walking up this is the gal," Derr said. Wilson and Derr celebrated Thanksgiving at Wilsons house Thursday with 15-20 other people. "Immerse herself in my craziness for Thanksgiving, Wilson said."I'm so proud of who she is," Derr said. The two are united with a future ahead."I think it looks great, said Derr. Absolutely great."

A mother and daughter shared a special Thanksgiving Thursday in western North Carolina.

The two are crediting genetic testing for uniting them.

Kristy Wilson was put up for adoption at birth. Her mother, Sandra Derr, didn't think she'd see her again.

"No, never," Derr said.

But several decades years later they used 23 and Me, a genetic testing service. The two say a hit came back, signaling a possible mother-daughter match.

"It was pretty scary, because you don't know what to expect," Wilson said.

The two communicated after the match and met in April. Wilson lives in Black Mountain, North Carolina while Derr lives in Delaware.

"It was unreal, really, I just knew walking up this is the gal," Derr said.

Wilson and Derr celebrated Thanksgiving at Wilsons house Thursday with 15-20 other people.

"Immerse herself in my craziness for Thanksgiving, Wilson said.

"I'm so proud of who she is," Derr said.

The two are united with a future ahead.

"I think it looks great, said Derr. Absolutely great."

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52-year-old daughter celebrates first Thanksgiving with mother - WYFF4 Greenville

DENVER Airports are filled with family reunions during the holidays, but for the Robertson's, they could have never seen this one coming.

Michael Robertson said that back in August, his dad told him he had news.

"My dad called me one night and said, 'I have an email for you to read.'"

It was from a man named Robb Collins who found Robertson after using the DNA genetic testing and analysis service, 23andMe.

Eventually Robertson and Collins got in contact and found out they were long lost brothers.

Robertson's father served in the Navy and when visiting the Manila, met Collins' mother. After leaving Manila, Collins was born but said his mother couldn't get in touch with the father anymore.

"She explained that it was just... she lost track of him because he was in the Navy and its the 80s, so there was no Facebook," Robertson said.

For the first time and on Thanksgiving, Collins got to meet his father, brother and sister in person. A reunion he had only dreamed about for years and never thought would happen.

"I sort of look similar to my mom and whatnot and to see old pictures of him and to see pictures of my brother and to realize that Ive kind of been looking in the mirror my whole life is just mind blowing."

Continued here:
Man meets lost family on Thanksgiving thanks to 23andMe - The Denver Channel

Spitting intotheplastic test tube, I felt nervous. I was offering up a piece of myself for decoding, and while this timethere was no silver-haired sage, it reminded me of a visit to a fortune teller when I was 21.

Then, I offeredthepalm of my hand in a bid to divine what fate had planned for me. Now, it wasDNA, with my saliva destined for a laboratory in southwest China, totheheadquarters ofChengdu 23Mofang Biotechnology Co., a startup thats seeking to tap a boom in consumer genetics intheworlds most populous nation.

Rising awareness of genetically-linked diseases like Alzheimers and a natural human curiosity for insight intothefuture is fueling a global market for direct-to-consumerDNAtesting thats predicted totripleoverthenext six years. In China, wherethegovernment has embraced genetics as part of its push to become a scientific superpower,theindustry is expected to see US$405 million in sales by 2022, according to Beijing research firm EO Intelligence, an eight-fold increase from 2018. Some 4 million people will send away test tubes of spit in China this year, and I had just become one ofthem.

Not only was I entering a world where lack of regulation has spawned an entire industry devoted to identifyingthefuture talents of newborn babiesthroughtheir genes, I was handing over my genetic code to a country wherethegovernment has been accused of usingDNAtesting to profile minority groups a concern that hit home whentheresults showed I was a member of one.

I wanted to see whethertheburgeoning industry delivered on its claims in China, where scientists have gained international attention and criticism for pushingtheboundaries of genetics. And as a child of Vietnamese immigrants totheUS, Ive long been curious about my ancestry and genetic makeup.

To get an idea of how this phenomenon is playing out intheworlds two biggest consumer markets, I comparedtheDNAtesting experience of 23Mofang withthefirm CEO Zhou Kun says it was inspired by:23andMe Inc., one ofthebest known consumer genetics outfits intheUS.

PushingtheEnvelope

Thedifferences betweenthetwo companies are stark.

23andMe was co-founded byAnne Wojcicki, a Wall Street biotech analyst once married toGoogleco-founderSergey Brin.TheMountain View, California-based firm has more than 10 million customers and has collected 1 billion genetic data points, according to itswebsite. Brin and Google were early investors.

By contrast, 23Mofang is run out oftheChinese city of Chengdu, and Zhou, 36, is a computer science graduate who createdthecompany after becoming convinced Chinas next boom would be inthelife sciences sector. 23Mofang expects to have 700,000 customers bytheend of this year, a number he projects will at least double in 2020.

Thedivergence betweenthetwo countries andtheir regulation oftheindustry is just as palpable. Chinas race to dominate genetics has seen it push ethical envelopes, with scientistHe Jiankuisparking a global outcry last year by claiming to have editedthegenes of twin baby girls.Theexperiment, which He said madethem immune to HIV, put a spotlight on Chinas laissez-faire approach to regulating genetic science andthebusinesses that have sprung up around it.

When my reports came back, 23Mofangs analysis was much more ambitious than its American peer. Its results gauged how long I will live, diagnosed a high propensity for saggy skin (recommending I use products including Olay and Estee Lauder creams) and gave me an optimist not prone to mood swings a higher-than-average risk of developing bipolar disorder. 23andMe doesnt assess mental illness, which Gil McVean, a geneticist at Oxford University, says is highly influenced by both environmental and genetic factors.

Thefortune teller who pored over my palm told me I would live to be a very old woman. 23Mofang initially said I had a better-than-average chance of living to 95, before revisingtheresults to say 58% of clients hadthesame results as I did, making me not that special, and perhaps not that long-living.

When I ranthefinding pastEric Topol, a geneticist who foundedtheScripps Research Translational Institute in La Jolla, California, he laughed. Ninety-five years old?Theres no way to put a number on longevity, he said. Its a gimmick. Its so ridiculous.

Zhou saidtheaccuracy ofthelongevity analysis, based on a 2014 genetics paper, is not too bad, thoughthecompany plans to updatetheanalysis with research thats being undertaken on Chinese elderly.

But when it comes to disease,theresults of both companies showed howthescience of genetics, particularly attheconsumer level, is still a moving target.

Its All AbouttheData

After claiming I had a 48% greater risk thanthegeneral population of developing type 2 diabetes, both 23Mofang and 23andMethen revisedtheresults.

First, 23andMe cuttherisk figure from its analysis, posted in an online portal I accessed with a password.Theoverview analysis that I have an increased likelihood of developingthedisease never changed. But a few months later,thefigure was back, with a slightly different explanation: Based on data from 23andMe research participants, people of European descent with genetics like yourshave an estimated 48% chance of developing type 2 diabetes at some point between your current age and 80.

Shirley Wu, 23andMes director of health product, saidthecompany occasionally updates its analysis. My risk figure might have changed if I indicated my ethnicity and age, she said. I hadnt given any biographical details or filled out any surveys on 23andMes site.

Your risk estimates will likely change over time as science gets better and as we have more data, Wu said. We are layering in different non-genetic risk factors, and that potentially updates our estimates.

Algorithms and data underpintheanalysis of both companies, asthey do for other genetic testing firms, so it apparently isnt unusual forDNAanalysis to shift as more research and data into diseases becomeavailable. Still, I was confused.

I reached out to Topol, who said that 23andMes diabetes finding likely didnt apply to me sincethevast majority of people studied forthedisease are of European descent. Wu saidthe American company does have a predominantly European database but has increased efforts to gather data for other ethnicities as well.

23Mofang, meanwhile, also revised my diabetes risk to 26%. My genes hadnt changed, so why hadtheresults? CEO Zhou saidthecompany is constantly updating its research and datasets, and that may changetheanalysis. As time goes by,there will be fewer corrections and greater accuracy, he said.

For now, theres a possibility you can later get a result thats opposite oftheinitial analysis, said Zhou.

Additionally,theaccuracy of genetic analysis varies hugelydepending onthetraits and conditions tested because some are less genetically linkedthan others.

Zhou isnt deterred by criticism. He said 23Mofang employs big data and artificial intelligence to findthecorrelations to diseases without relying on scientists to figure it out.

While its impossible to get things 100% right,thecompanys accuracy will get better with more data, he said.

Ancestry Mystery

You might assume thatthetwo companies would offer similar analysis of my ancestry, which Ive long thought to be three-fourths Vietnamese and one-fourth Chinese (my paternal grandfather migrated from China as a young man). Born in Vietnam and raised intheUS, I now live in Hong Kong, a special administrative region of China.

23andMes analysis mirrored what I knew, but my ancestry according to 23Mofang? 63% Han Chinese, 22% Dai an ethnic group in southwestern China and 3% Uyghur. (It didnt pick up my Vietnam ancestry becausetheanalysis only compares my genetics to those of other Chinese, according tothecompany.)

That led me tothebig question in this grand experiment: How safe is my data afterthesetests?

Human Rights Watch said in 2017 that Chinese authorities collectedDNAsamples from millions of people in Xinjiang,thepredominately Muslim region thats home totheUyghur ethnic group. Chinas use of mass detention and surveillance intheregion has drawn international condemnation. What if Beijing compelled companies to relinquishdata on all clients with Uyghur ancestry? Couldthedetails of my Uyghur heritage fall into government hands and put me at risk of discrimination or extra scrutiny on visits to China?

23Mofangs response tothese questions didnt give me much solace. Regulations enacted in July gavethegovernment access to data held by genetics companies for national security, public health and social interest reasons.Thecompany respectsthelaw, said Zhou. Ifthelaw permitsthegovernments access tothedata, we will give it, he said.

Theauthorities havent made any requests for customer data yet, Zhou pointed out. Chinas State Council, which issuedtheregulations, andtheMinistry of Science & Technology didnt respond to requests for comment.

Over intheUS, 23andMe said it never shares customer data with law enforcement unlesstheres a legally valid requestsuch as a search warrant or written court order.Thecompany said its had seven government requests for data on 10 individual accounts since 2015 and has not turned over any individual customer data. It uses all legal measures to challenge such requests to protect customers privacy, said spokeswoman Christine Pai.

No Protection

New York Universitybioethics professorArt Caplansays privacy protections on genetic information are poor in most countries, including in the USand China.

I dont think anyone can say theyre going to protect you, he said. In China, its even easier for the government. The government retains the right to look.

23andMe appeals to potential customers with the lure of being able to make more informed decisions about your health, but after taking tests on both sides of the Pacific and realizing how malleable the data can be, as well as the myriad factors that determine diseases and conditions, I am left more skeptical than enlightened.

I gave away something more valuable than a vial of spit the keys to my identity. It could become a powerful tool in understanding disease and developing new medicines, but in the end its entrepreneurs like Zhou who will ultimately decide what to do with my genetic data. He plans to eventually look for commercial uses, like working with pharmaceutical companies to develop medicines for specific diseases.

We want to leverage the big database we are putting together on Chinese people, Zhou said. But first, we need to figure out how to do it ethically.

Excerpt from:
How do consumer DNA tests from the US and China stack up? - Abacus

Remember these two names, Lulu and Nana. They are twin girls born in China in October 2018, and we already know they are going to be famous.

They are the worlds first genetically-edited humans, and their progress through life will be monitored intensively by medical researchers over the coming years.

Dont doubt their future celebrity. Remember the headlines when Dolly the sheep arrived in 1996, the worlds first mammal cloned directly from an adult cell. Or how about Louise Brown, who made headlines in 1978 as the first baby to be conceived using invitro fertilisation (IVF) techniques.

Although the methods used to bring about these three births are light years apart, all three involve the delivery of an offspring using unorthodox methods.

All three were also controversial in their day. There was no end of condemnation and criticism about playing god and defying the laws of nature for the first two, but now IVF is commonplace for lots of medical reasons and is accepted as a standard medical practice. And news of another species successfully cloned in the lab would not make headlines today.

However, the genetic modification of the twins is a different matter, a genetic change introduced before birth to deliver a permanent alteration of their original genome that will be passed down from generation to generation.

Prof He Jiankui of the Southern University of Science and Technology carried out the genetic change needed to permanently modify the twins genome. He introduced a mutation that gave Lulu and Nana resistance to the Human Immunodeficiency Virus, the virus that causes Aids, and revealed his successful genetic modification one year ago this month.

The backlash was immediate and severe. There was international condemnation that China allowed experimentation on humans. Last January his university sacked him.

The scientific community also criticised the work as having crossed an important red line for genetics research, the reality that we still know too little about how even the smallest genetic change might have unexpected impacts downstream in other parts of the genome.

It was bad enough that a modification had taken place, but the modification was in the germline, the cells that bring about the next generation and the next and the next.

Perhaps the lure of notoriety proved too strong or the desire to be the first, but He Jiankui crossed that line, helped along the way through use of a gene-editing method known as CRISPR-Cas9.

This method emerged over several years, and has become the gene-cutting tool of choice because it allows very tight control over how a gene can be modified, added to or deleted.

When it came into widespread use the scientific community recognised immediately that controls on its application were necessary to prevent its use in human gene modification. This should have prevented He Jiankui from attempting such a daring and defiant experiment but it didnt, and Lulu and Nana were the result.

They were born healthy but now scientists will want to know whether there are unexpected or unwanted effects or other issues that arise. Already researchers have raised doubts about the gene modification that confers resistance to HIV, which means some level of susceptibility to the virus may remain.

The modified gene, known as CCR5, also has other roles in the body, and its modified actions may affect the lifespan of the twins. One large study involving 410,000 subjects showed that people with a similar mutated version of CCR5 were 20 per cent more likely to die before reaching the age of 78.

Despite these misgivings there is no doubt that CRISPR-Cas9 will in the future be used to modify the human genome in the battle against difficult diseases such as cancer and in genetic disorders caused by specific gene mutations. The tool is far too important to avoid its eventual use, or the use of some other similar but as yet unidentified gene-cutting method.

Similarly there is little doubt that online charlatans will offer promised but undeliverable cures using CRISPR-Cas9, as was the case with earlier technologies such as stem cells.

Lulu and Nana, meanwhile, will get on with living their lives, doing what babies do. Their names are pseudonyms in an attempt to conceal them from public view, but it is likely that we may learn their real names in the future.

Lulu and Nanas story came to mind in light of research published last week (November 21st) in the journal Cell about how attempting to create designer babies using other advanced technology could still remain a costly waste of time.

It involves choosing an embryo based on its potential to be tall or smarter than average, but accomplishing this via something like CRISPR-Cas9 is too far beyond our current abilities. Instead the international team of scientists set up a model to simulate one method called pre-implantation genetic testing.

This involves screening the genome for genes that have an association to a given trait, in this studys case intelligence and height, and giving them a score. The team found, however, that at best the top-scoring embryo might be expected to be 2.5cm taller than average and at best 2.5 IQ points above average.

Lurking behind all of this remains the most challenging of issues, the ethics surrounding the use of this technology.

As usual the ethics questions that should have been asked first are the ones obscured by the advance of these promising discoveries.

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Lulu and Nana are the result of a defiant experiment in human gene modification - The Irish Times

SEATTLE The King County Public Health Department is working to determine the source of an outbreak ofE. colipotentially associated with four Evergreens Salad restaurants in Seattle.

Health officials said this strain of E. coli currently appears to be different from the strain causing the national outbreak of E. coli connected to romaine lettuce grown in the Salinas region of California.

Since Nov. 20, 2019, King County Health has learned of six people who have tested positive for E. coli after eating food at four different Evergreens Salad restaurants in King County. An additional person was diagnosed with E. coli and their infection is the same strain as the others, however, that person did not report eating at Evergreens.

The restaurants are located at:

All of those locations have an "Excellent" food safety inspection rating from the King County Health Department.

Health officials said between Nov. 21-25, Environmental Health investigators visited the Evergreens locations where the patients reported eating and they did not find any risk factors associated with the spread of E. coli, such as poor hand washing or improperly handling foods.

The Evergreens locations have also tossed all their romaine lettuce and extensively cleaned their cutlery and other items to cut down on any possible spread of the infection.

Evergreens released the following statement Tuesday evening, "Food safety is our top priority. We work every day using best practices so the food in our restaurants is safe and healthy. We have been in close contact with the health department and continue to cooperate fully to learn more about the source of the issue."

"People need to know if they ate at an Evergreens location and developed symptoms of E. coli, which can be diarrhea, which sometimes is bloody, nausea, abdominal cramping, that they should seek health care if their symptoms are ongoing," said King County Public Health officials.

Officials said this local outbreak could be the result of a contaminated product that was delivered and served at Evergreens. They also said some of the people who became sick after eating at Evergreens also said they ate raw vegetables, including leafy greens, from sources other than Evergreens in the days prior to their illness.

That means they could share a separate source for their illness, unrelated to Evergreens, officials said.

The King County Health Department has finished genetic testing on four of the seven local cases and officials said they did not match the genetic fingerprint of the strain connected to the national outbreak. However, health officials are still waiting for genetic testing from the other three cases.

King County health officials reported last week that one local man has been diagnosed with E. coli connected to romaine lettuce from the Salinas region.

However, again, officials do not suspect these new cases are connected to the national outbreak.

Evergreens setup a customer care number for guests: 877-394-4146.

RELATED: Don't wash your Thanksgiving turkey, food safety experts warn

RELATED: Dont eat romaine lettuce from Salinas, California, US officials say

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King County looks for source of E. coli outbreak possibly linked to Evergreens Salad chain - KING5.com

MCELMO CANYON The apple orchard on Jude and Addie Schuenemeyers farm in a squiggle of a canyon in far southwest Colorado is a wild place. Turkeys gobble around on the hunt for bugs in native grasses that grow nearly as high as the gnarly limbs of the apple trees. Those trees are set hither and thither instead of lining up in typical tidy orchard rows. They bear apples that few fruit fans have likely heard of: Winter Banana, Blue Pearmain, Ben Davis and Esopus Spitzenburg.

This scraggly looking orchard is an important place in the country when it comes to preserving the historic outliers of a fruit famous for keeping the doctor away. In an orchard designed to be a water-saving pollinator sanctuary and a historic throwback, and in a nearby greenhouse filled with baby trees, the Schuenemeyers are preserving rare varieties of apples. They have hunted many of them down and grafted them from century old trees scattered and clinging to life around farms and yards in a corner of Colorado that once was world famous for its apples.

World famous is no exaggeration. Montezuma County apples took three of four gold medals in the St. Louis Worlds Fair in 1904. Two years later, they earned 101 of the 104 ribbons bestowed on apples at the Colorado State Fair.

The Schuenemeyers keyed in to this rich history in the early 2000s when they were running a nursery and hearing from old-timer customers nostalgic for apples they had known as kids. The Schuenemeyers began searching out historic trees, and Jude taught himself to graft so he could revive some of the old apple varieties.

Five years ago, they started the non-profit Montezuma Orchard Restoration Project to expand on their work. Since then, they have not only identified and saved hundreds of historic apple varieties from extinction, they have also sparked a renewed interest in apples. Apples are once again part of the Four Corners areas identity and its economic engine. Historic apples are a new point of pride in a region long known mainly for ancient ruins.

We have some of the rarest of the rare here in this area. We have thousands of apple trees that are 80 to 135 years old, Jude says as he picks his way through his own orchard followed by the curious turkeys and roughhousing dogs.

Through DNA testing, the Schuenemeyers have been able to identify nearly 500 varieties that had been planted in the southwest corner of Colorado prior to 1930.

That number is eyebrow-raising when compared to the fact that there are currently just 15 dominant apple varieties in American supermarket bins, including the Red Delicious, the Golden Delicious, the Granny Smith and more recently, the Honeycrisp.

Even more surprising; around the turn of the last century there were 17,000 varieties of apples growing across the United States, apples with intriguing names like Viberie, Black Oxford, Ashmeads Kernel and Duchess of Oldenburg. Currently, about 7,500 varieties remain worldwide.

The Schuenemeyers DNA testing shows that nearly 200 of the 500 varieties theyve found are considered rare. Another 100 or so are unique/unknown.

This local diversity is best seen in the Schuenemeyers greenhouse. In the past year they have grafted 1,600 twigs, also known as scions, from old trees onto new root stock. Hundreds of these little trees line up in buckets waiting to be replanted in demonstration orchards or in the backyards of buyers at the Montezuma Projects regular tree sales.

Each tree is tagged with a name, or with a number and letter code for the unknowns. When an unknown variety stands out for its notable appearance or taste, the Schuenemeyers bestow names like Carnation Salmon and Purple Mountain Majesty.

Jude moves through the greenhouse disseminating rapid-fire information about different varieties. He knows the growing season, the texture, the taste and the history of many of the trees. He points out particular favorites.

Isnt this guy gorgeous? he says as he riffles the reddish leaves of an unknown cultivar in the same loving way he fluffs the hair of his year-old daughter Hazel.

And look at this funny little guy. He points to a stubby tree that required numerous attempts at tongue-and-groove grafting to finally get a new start on life. He has no idea what it is just that it is no ordinary apple.

We are identifying the rarest of the rare here, he said.

Beyond the Schuenemeyers home and orchard, which is hidden behind heavy foliage in McElmo Canyon, it is easy to see spreading signs of their apple crusade.

The Four Corners area is now home to two cideries that take advantage of historic varieties of ugly, bitter apple varieties known as spitters. Spitters are especially suited for ciders. A third is planning to set up shop in an old juice factory in Dolores.

Id love to see the Four Corners become the Napa Valley of hard cider. I do think it has potential, says Martha Teal, who started Teal Cider at her historic T Lazy T Orchard near Dolores.

Sam Perry, an owner of Fenceline Cider in Mancos, has gone all in on the potential of apples. He planted 800 cider apple trees in the past three years and is planning to plant another 1,200 in the spring.

This area has been so reliant on cattle and hay for so long, he says. But I am hoping we are at a tipping point now for an apple renaissance.

There are glimpses of a renaissance where an orchard sprouts alongside a football field at Montezuma-Cortez Middle School. A new demonstration orchard has been planted in a park in the Town of Dolores a town that was once all orchard before homes and businesses moved in. That orchard, funded by a USDA Specialty Crop grant, will feature interactive materials so visitors can look up information on the histories and genetics of various varieties. An orchard of historic apples is also being planted near the small farming community of Yellow Jacket.

A historic Gold Medal orchard in McElmo Canyon that is being preserved in a partnership with The Nature Conservancy, is also a showpiece for the apple revival. It once sent ribbon-worthy apples to the Worlds Fair. An orchard also has been preserved near Hesperus, on a hillside at what was once a military fort and later an Indian boarding school.

The Montezuma Project has inserted apple education into local schools, organized apple-themed community socials, taught grafting classes and brought in mobile apple juicers. Local businesses have pitched in on the apple effort by making sustain-a-tree donations. They place their ads in an apple-of-the-month calendar alongside images of both brawny and winsome looking historic apple varieties.

The Montezuma project is also lending support to other apple preservation projects around the state and sharing genetic apple information with universities and other apple researchers around the country.

Nostalgia for historic apples has cropped up in other parts of Colorado where a diversity of apples once flourished areas around the North Fork Valley, Boulder, Caon City and the West End of Montrose County.

The nearly 3-year-old Boulder Apple Tree Project is doing many of the same identifying and preserving tasks as the Montezuma Project, but it has more of an academic focus because of its link with the University of Colorado. That project has no plans to try to revive an apple industry in that area, according to CU research assistant Amy Dunbar-Wallis.

CU students do in-the-field collections and in-the-lab genetic testing on historic apple varieties.

Last year the students tested samples from around 500 trees and identified about 90 individual varieties. This year they are testing another 300 trees and plan to reveal results at a Dec. 7 apple symposium that will include talks by the Schuenemeyers and by a USDA geneticist. It will also feature Katharine Suding, a CU plant ecologist who started the Boulder project after her son asked where did that come from? about a gnarly old apple tree in their backyard.

Dunbar-Wallis says the apple project has been popular with students as well as community members: A lot of it has to do with nostalgia. It connects people to the land and feeds that interest in knowing where their food comes from.

In a rural far-west area of Colorado stretching from Redvale to Paradox, a preservation effort called the Apple Core Project has been mapping, documenting and grafting scions from some of the 800 historic apple trees that have been identified there. Fifty historic varieties have been planted in a contoured demonstration orchard in the middle of Nucla, where apples used to come with similar bragging rights to Montezuma Countys.

In the early part of the last century Nucla-area apples like the Wolf River, the Yellow Bellflower, the Maidens Blush and the Seek No Further took 49 ribbons at a Colorado State Fair. A 1906 newspaper article trumpeted the tale of a magnificent apple grown in nearby Paradox and delivered to miners in Telluride. It had a 15-inch circumference.

Melanie Eggers, who founded the Apple Core Project with Jen Nelson four years ago, said they were inspired by the Montezuma Project. They borrowed some of the Schuenemeyers ideas for apple socials and educational events.

Eggers said it is not unusual to have townspeople stop by the orchard in Nucla to share memories of the old orchards and thank them for reviving a bit of the apple heyday.

One older woman cried and said, This gives me hope for our future generations, Eggers recalls. It turns out this is very meaningful for our community; more so than we ever thought.

All these apple-revival areas suffered from the same historical forces weather, politics and industrialized farming that sidelined so many varieties of apples.

The many varieties came to Colorado with pioneers who planted so many types of apples for good reason. Because different varieties ripened at different times and had different shelf lives, they yielded a year-around supply of fruit. Families could also handle the staggered harvests without having to hire outside crews.

Some of the trees were chosen to yield the spitters for hard ciders. Because they had no use other than to make booze, most fell to the axes of FBI agents during Prohibition.

Washington state played a big part in killing off the cornucopia of apple varieties in Colorado. Growers in Washington, a less challenging place weather-wise to grow apples, embraced the idea of an apple monoculture that could yield huge amounts of long shelf life fruit that could be shipped across the country by rail. Old varieties were torn out to make way for the Red Delicious which, at its height of popularity, accounted for 80% of all apples grown in the country.

That shift turned apple farming into the apple industry. Colorado tried to join that industry to compete with Washington. Crops were rejiggered to favor uniform, blemish-free globes. The Pitts Bitters, the Knot Heads and the Wine Kissed didnt stand a chance. But Colorado was never able to catch up, and many orchards were ripped out to make way for more profitable crops.

The current effort to identify and preserve these nearly lost varieties is happening against the backdrop of another Washington-fueled apple blitz the fruit equivalent of a new iPhone release.

Washington has developed a new variety called the Cosmic Crisp, set to hit stores on Dec. 1. It got its name from the tiny yellow dots that look like distant stars on a red background. Growers there have the exclusive right to grow and sell the apple for the next decade.

This goes against the grain for apple variety preservers like the Schuenemeyers, who devote their efforts to getting as many apple varieties back out into the world as possible.

History and ever-changing consumer demand show that the favorite apple of today may become scorned tomorrow, and the apple scorned today may be sought after in the future, Addie says. Therefore, there will always be a place for fruit preservation efforts.

That doesnt mean the Schuenemeyers are averse to identifying a Cosmic Crisp-like star of historic apples. They have been searching for years for a once prized apple called the Colorado Orange that was thought to be extinct. They thought they found it on an old tree near Florence several years go, but DNA tests showed it was something else.

The Schuenemeyers now have another suspected Colorado Orange that DNA tests have deemed an unknown/unique. If it matches up to a wax apple in a long-forgotten collection at Colorado State University, they will be a step closer to declaring they have found the venerable Colorado Orange. And they will have saved a variety on its last leg; the tree is down to a single limb. The Schuenemeyers have succeeded in grafting 50 scions from it so far.

Their eyes light up when they set a few of those maybe Colorado Oranges on a stump at their orchard. The sun lights up the apples blush. The Schuenemeyers could be looking reverently at a piece of fine, valuable art.

I think we have inspired people to see that old trees have value, Addie says.

Jude simply nods, a dreamy smile on his face and a faraway look in his eyes.

This reporting is made possible by our members. You can directly support independent watchdog journalism in Colorado for as little as $5 a month. Start here: coloradosun.com/join

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An apple revival near Four Corners is restoring hundreds of historic fruits and the local ag economy - The Colorado Sun

By Citizen Staff | on November 28, 2019

PartnerMD will open its thrd Richmond-area location at GreenGate in Henricos Far West End in the spring of 2020, company officials announced this week.

The location will be the companys seventh overall and was prompted by what officials termed significant individual and corporate customer growth over the past two years.

PartnerMD describes itself as a concierge primary care and executive health practice.

Were very excited to offer a new, convenient location for patients in Richmonds far West End, PartnerMD CEO Zack Smith said. Our rapid growth and expansion of physicians and services has pushed the limits of our existing offices at Reynolds Crossing and Midlothian, and were thrilled to better serve both the residents and companies in this fast-growing part of our hometown market.

PartnerMD recently added two new physicians locally: Dr. Elizabeth Bigelow and Dr. Steven Bishop. Bigelow, a family physician, joined in October from the Hunter Holmes McGuire VA Medical Center and will transition to GreenGate upon opening. Bishop, an internist who starts in December from VCU Health, will see patients at Reynolds Crossing and serve as director of wellness at PartnerMD to continue the growth of the companys disease-prevention programs around such holistic health topics as weight loss, diabetes, sleep, and stress.

PartnerMD expanded its wellness offerings this year through a new genetics partnership with VCU Health. Through the partnership, patients have onsite access at PartnerMD offices to the advanced and personalized genetics counseling, as well as genetic testing that uses VCU Healths CLIA-certified laboratories.

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PartnerMD's third location to open at GreenGate in Henrico - Henrico Citizen

Months after his daughter's birth in 2017, Chris Jung dropped off a test-tube of her saliva to his company's genetic testing lab in Hong Kong. He had grand ambitions for the baby, and was seeking clues to the future in her DNA. She might become a prominent professional, he thought, possibly even a doctor.

But Jung's plans shifted after analysis by his firm, Gene Discovery, suggested his daughter had strong abilities in music, math and sports - though a lesser aptitude for memorizing details. As the little girl grows up, Jung said he will pour resources into developing those talents, while steering her away from professions that require a lot of memorization.

"Originally, I would like her to become a professional like a doctor or lawyer," said Jung, chief operating officer of Good Union Corp., the parent company of Gene Discovery. "But once I looked into the results, it talked about how her memory is so bad. I switched my expectations because if I would like her to become a professional, she needs to study a lot and remember a lot."

Gene Discovery does brisk business hawking DNA tests out of a warren of rooms in Hong Kong's Tsim Sha Tsui shopping district, near stores selling Prada bags and Dior watches. More than half of its clients are from China's mainland, where parents eager to shape their offspring into prodigies are fueling the advance of a growing but largely unregulated industry. It's a Chinese version of helicopter parenting that reflects the country's tendency to push the boundaries when it comes to genetics, part of a broader race to dominate the field with ramifications for how the life-altering science is used throughout the world.

While gaining in popularity across the globe, consumer genetic testing is booming in China. Delaware-based research firm Global Market Insights Inc. sees sales of DNA testing services tripling to $135 million by 2025 from $41 million last year. Others, like Beijing-based consultancy EO Intelligence, project an even faster surge in the market, to $405 million in 2022. EO Intelligence also forecasts that by then, some 60 million Chinese consumers will be using DNA testing kits, up from 1.5 million people last year.

For now, the Chinese market is a fraction of the $300 million in the U.S., but the company expects the country's growth to edge ahead, with annual sales growing nearly 17% through 2025 compared to 15% in the U.S., according to Global Market Insights.

Gene Discovery is among a wave of companies seeking to cater to that rising demand, playing the role of modern-day fortune tellers, with DNA as their crystal ball. A search of Chinese online shopping platform JD.com and the internet in Mandarin throw up dozens of firms offering genetic talent testing for babies and newborns. Their promises are similarly lofty, vowing to help parents uncover their children's "potential talents" in everything from logic and math to sports and even emotional intelligence. Help your child "win at the starting line" is a common marketing refrain.

In a society like China, which saw 15 million babies born last year, the appeal is clear. But many of the claims from these newly minted companies - that DNA can be used to assess ability to memorize data, tolerate stress or show leadership - are more horoscope than actual science. Critics say that in many cases even those claims rooted in science, like assessing the risk of autism, are based on early-stage research that is not yet fully understood.

"There's not a scientific basis on which you can say those things with any degree of certainty," said Gil McVean, an Oxford University geneticist who's the director of the Big Data Institute. The center focuses on analyzing genetic and biological data to prevent and treat diseases.

Gene Discovery's executives say they aren't giving direct or conclusive advice - only laying out potential health risks and talents parents can use as a reference in a hyper-competitive culture. After decades of strict population control laws that were repealed in 2016, most Chinese parents still only have one child who is the focal point of their ambitions.

"DNA tests can be one of the drivers and the motivator, so parents can provide more focused resources to their kids," said Jung. Tests sold on Gene Discovery's website cost HKD$4,500 ($575) and include an "i-Genius package" to test toddlers for talents.

Making China one of the world's most scientifically advanced nations is key to President Xi Jinping's ambitions to make the country an indisputable world power, but few things illustrate the challenges that throws up than China's fascination with genetics. Largely unencumbered by the regulations and scrutiny seen in the U.S. and other developed countries, China's genetic strides often test the limits of science and bioethics. Last year, a Chinese researcher, He Jiankui, created the world's first genetically altered babies, sparking a global outcry and concern the nation might usher in an era of human germline editing - where genetic modifications are passed on to future generations, altered forever.

And for every report of Chinese scientists making genuine medical breakthroughs, such as gene-editing the annihilation of a superbug, there are the more eyebrow-raising experiments: researchers cloning macaques born with genes edited to trigger mental illness, using CRISPR to breed ultramuscular beagles, or creating "super monkeys" by injecting their brains with human DNA.

DNA is the code that the human body runs on and it determines much about who we are. But scientists are still working to understand that code, with many characteristics not caused by one or two genes - but hundreds or possibly, thousands. An individual's experiences and environment also play a major role in shaping, say, whether they're a math genius or if they'll develop cancer.

A person's DNA doesn't single-handedly determine who they are, and having a certain gene can't predict your future. It can only suggest the likelihood of developing a condition or trait. One highly-cited 2003 study in the American Journal of Human Genetics found a compelling link between a variant of the gene ACTN3 and elite power athletes like sprinters, but studies since have found that while most sprinters have that variant, not everyone who has it is an elite athlete.

Likewise, having a harmful mutation of the BRCA gene, commonly associated with breast and ovarian cancer, doesn't mean a person will ever develop the disease. It just means their risk is higher than others without that variant.

In recent years, genetic testing and other screening methods have led to breakthroughs in assessing cancer risk in adults, or diagnosing conditions like Down syndrome in-utero. But in China companies are taking that further, promising to deliver insight on life beyond the womb that current science often doesn't support.

After her baby's birth in 2017, Zhou Xiaoying checked into a postpartum center where she was taken care of by a staff of women, cooks and traditional healers - as is the custom in China for upwardly mobile mothers. There, a sales representative from a genetic testing firm made her a tantalizing offer: For about $1,500, the company would swab saliva from her son's mouth to offer a peek into his future.

The test, which also analyzed the baby's predisposition to genetic diseases, told Zhou her son was likely to be gifted in music and the arts - but weak in sports. Zhou says her now two-year-old son can hum a song in tune after hearing it once, and the family is moving into a bigger house where she intends to cultivate his talents. Zhou pulled the boy out of running and swimming classes and instead plans to buy a piano and start him soon on lessons.

"I wanted to know about his talents in the future so that I can set a direction for him," said the Shanghai mom, who used to work in the financial industry. "If you believe the results, then you can use it as a reference. If you don't, that's fine because it doesn't hurt."

Chinese tradition stresses the importance of developing the next generation, while technological advances have fueled the national obsession with DNA, said Wang Zhaochen, a bioethics lecturer in Zhejiang University.

But it's reached a point where even the local scientific community are becoming concerned that the rise of consumer testing could "damage the authority of those real genetic tests that can really help diagnose diseases," he said.

Though the increasingly competitive nature of child-rearing is also felt in places like the U.S. - with the college admissions scandal evidence of those pressures at work - talent testing of toddlers and babies is yet to catch on.

In America and Europe, most consumers who take DNA tests are looking for analysis on their ancestry and health risks. The U.S. Food and Drug Administration doesn't regulate consumer tests focused on wellness, athletic ability or other talents, but does oversee those detecting the risk of diseases like cancer. California-based 23andMe Inc. is the only company with permission to offer disease-risk DNA tests in the U.S. without the involvement of a doctor, and it was only allowed to do so after submitting its process for review to the FDA.

By contrast, China has dozens of firms selling tests that claim to give insights on medical risks for everything from cancer to mental disorders, but no clear rules to regulate them. A representative for the country's National Health Commission said it doesn't regulate companies offering the tests.

In Hong Kong, which just requires medical labs and those who provide genetic testing to comply with a medical registration ordinance, questions are being asked. Ramon Yuen Hoi-man, the healthcare policy vice spokesman of Hong Kong's Democratic Party, lodged complaints this spring with agencies in the territory, concerned genetic companies offering talent testing are misleading consumers about the limitations of the tests and exaggerating the benefits of the analysis. The Food and Health Bureau has formed a steering committee to look into the regulatory and ethical issues around consumer genetic testing.

Sharon Shi, a finance professional based in the southern Chinese city of Shenzhen, took a train across to Hong Kong and spent nearly $4,600 to have her three-year-old tested by a company called DNA WeCheck. The company sent her a report as thick as a book. Shi, who spends a lot of time planning her daughter's education, said the analysis helped her understand why the girl likes making up lyrics and painting free-style.

The test also told Shi that the toddler has an above-average risk of "sudden cardiac death." To strengthen the little girl's heart, DNA WeCheck recommended foods like celery and the edible fungus that's used in Chinese cooking. Members of her husband's family do have a history of heart disease, so she wasn't surprised by the finding. While research suggests a strong link between sudden cardiac death and genetics, it's still not fully understood.

Gene Discovery's parent company, Good Union, sells aesthetic medical equipment, skin-care and hair-care services, and added DNA testing two years ago after executives noticed demand for talent testing among their friends. The firm, like other genetic testing companies, compares customers' genetic data with that of reference populations in public databases and publicly available research linking genes and diseases. By comparing snippets of one genome to others, it says it can identify which specific genetic variations are linked to diseases and certain conditions.

To determine whether a child is at risk of developing Attention Deficit Hyperactivity Disorder (ADHD), Gene Discovery zeroes in on the BDNF gene, which produces instructions for manufacturing a brain protein. But the two studies the company says it bases its determinations on were at least a decade old and were conducted in the U.S., the U.K. and Ireland. CBT Gene, the Hong Kong company that conducts testing and analysis of Gene Discovery's kits, said it continues to use the BDNF gene since there is more current research that associates the gene as an increased risk factor for ADHD, and cited a scientific research paper published in 2016 that makes the case. It's also possible that as the company's research database is updated, CBT may revise its model for ADHD prediction and add other genes, said Chief Technology Officer Jay Liang.

Still, some health experts aren't convinced.

"There's just no way a DNA test will tell you anything that's meaningful about complex traits," said Timothy Caulfield, a bioethicist and health policy expert at the University of Alberta who specializes in genetics. "And these parents are changing their kids' lives."

___

Bloomberg's Jinshan Hong and Shirley Zhao contributed to this report.

Chris Jung, Chief Operation Officer of Gene Discovery, poses a photograph with his wife Louise Poon and daughter Kaysley Jung in Hong Kong on June 6, 2019. PAUL YEUNG/BLOOMBERG

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Chinese parents test DNA to check if kids will become prodigies - Stars and Stripes

SALEM Technologies such as sexed semen and genetic testing were once an expensive niche for elite cattle, but they are quickly becoming a necessary tool for success, according to a new report by Rabobank.

Rapid advances in breeding technologies and genetics are changing the way dairy producers run their businesses and design their herds, Ben Laine, dairy analyst and author of the report, said.

Sexed semen has become commonplace in the dairy industry, but dairy producers are also using genetics to design their dairy herds, he said.

Genomic testing in dairy began in 2009 on elite animals, costing about $200 per test. But the cost has fallen to a range of $30 to $50. Blood or hair follicle samples are taken shortly after birth, and lab results are available in a matter of days.

Producers using genetic testing are able to determine a heifers genetic potential early in life, before it enters the milking herd, he said.

Replacement costs are the third-highest cost on a dairy, and genetic testing is shifting the mindset from a tendency to keep every heifer, he said.

Instead, with the additional data, producers can focus more on maintaining the optimal size of their milking herd and maintaining only the best animals in that herd, he said.

Dairy producers are also pairing genetic testing with sexed semen, which increases the likelihood of a cows offspring being female to over 90%.

That allows the genetics of the most favorable cows to be maintained in the milking herd, he said.

Heifers will generally receive sexed semen for their first pregnancy due to their naturally high conception rates. Beef semen is then bred into the portion of the herd with lower genetic potential.

Breeding all first-pregnancy animals with sexed semen could depend on the replacement/milk cow ratio on the farm and herd growth aspirations. But that could start to change among farms that have already made progress on their genetics and arent looking to expand, he said.

Embryo transplant is also used to maintain favorable genetics in the milking herd. Newborn heifer calves have about 150,000 ova, but a dairy cow normally only has two to four calves over the course of its life.

By harvesting and fertilizing the ova and transplanting the embryos, the genetics from a single cow can be passed to many more offspring. In addition, embryos can be transferred to either dairy or beef cows to facilitate herd expansions with specific traits, he said.

As the cost of these technologies decreases and word spreads about their effectiveness, more producers will begin using them and it will become critical to long-term success, he said.

Producers who are not adopting these technologies will increasingly fall behind and see their efficiency lag compared to their peers, he said.

While the early focus of genomics has been on traits to optimize milk and component production, the next frontier will likely focus on traits, such as feed conversion, heat tolerance, disease resistance or physical traits that would work better in the context of robotic milking, he said.

Here is the original post:
Dairy industry moving toward 'designer' cows | Business - East Oregonian

More and more, we see the advertisements on television and social media touting at-home tests from everything from fertility to menopause, food sensitivities to genetic tests that not only reveal ancestral mysteries but also uncover health concerns.

Patients are more likely to try these tests and then arrive in the office, concerned about the findings. As a clinician, how can you be ready, and what should you know about at-home hormone and blood tests?

RELATED: Estimate Diabetes Patients Risk of Complications Over the Next 10 Years with This New Tool

Florence Health spoke to several health professionals whove seen an increase in at-home testing among their patients, including allergist Tania Elliott, MD, spokesperson for American College of Allergy, Asthma and Immunology; reproductive endocrinologist Dale Stovall, OB-GYN with Methodist Health System; and Kathy Moran, spokesperson for the American College of Medical Genetics (ACMG).

The resounding response: These tests are not accurate enough for consumers to be using without medical oversight.

The growing number of over-the-counter tests available to consumers include DNA tests, such as the popular 23andMe. This test doesnt just promise to match your ancestry, but it also offers health predisposition for diseases and other traits that may run in a persons DNA. The FDA-authorized reports are all based on a saliva sample.

Food sensitivity tests, such as those by EverlyWell, measures IgG levels in nearly 100 foods with just the prick of blood from a consumers finger. At-home pregnancy, fertility and menopause predictors, as well as testing for common STIs, sold in big-box stores like Walmart, use urine or blood samples to help patients self-diagnose their symptoms, without the need of a medical practitioner.

The most common hormone test is a pregnancy test, which provides a positive or negative result, Dr. Stovall says. These have been used for a long time and are very good and have gotten even more sensitive over the course of 30 years to accurately predict a pregnancy.

Newer tests used to predict menopause, on the other hand, are not for primetime, he adds. These tests are using the Anti-Mllerian hormone that we use to determine how well ovaries are ready to be stimulated for fertility injections. They think we can use this to see what fertility chances are, but they are not accurate as different people have different levels and a low dose doesnt mean earlier menopause or lower fertility rates.

Food allergy tests are similarly misleading.

RELATED: The Pros and Cons of Oral Immunotherapy

What I am seeing are at-home IgG tests to check allergy antibodies in foods, says Dr. Elliott. Unfortunately, there is no evidence that if a patient has any sensitivity to a food that they have an allergy.

Genome tests can review genes and spot mutations that may indicate an increased risk for certain cancers or diseases like Alzheimers, Huntingtons or Parkinsons. The FDA permits breast and ovarian cancer screenings at home using DNA tests. But the ACMG stresses that results are increasingly complex and must be placed in context with medical and family history to provide meaningful information.

Just like when a patient shows you a diagnosis from Dr. Google, you should trust the anxiety and ask questions to find what led them to the tests in the first place.

If a patient who is 35 is taking a test to determine menopause, I want to know what is making her think that she may need to worry about early menopause, says Dr. Stovall. Is she experiencing any symptoms, such as hot flashes and a lack of a period? Does she have a family history with a mother or aunt who went through early menopause? Once I determine the issue, I can then work on additional tests and how to manage my patients care.

For food allergies, explaining the reliability of the tests may help, too.

Patients feel if they have an antibody for a food that it must mean they have an allergy to that food, which isnt necessarily true, says Dr. Elliott. The best thing a patient should do if theyve taken an IgG test and feel they have an allergy is to keep a food diary for two weeks. Patients should write down what they ate and if they experienced any bloating, headaches or troublesome bowel movements after eating, then sit down with an allergist or nutritionist who is trained to do the detective work.

RELATED: Americans Search for Info About CBD Online More Than Any Other Health Product

You should also highlight the issues with over-the-counter tests and how to use them properly. At-home tests are most helpful when confirming a suspicion. If I had eggs and ketchup for breakfast and broke out in hives, then I can take the IgG test and it may show me it was the eggs and not the ketchup, says Dr. Elliott.

But, remind them not to treat their own symptoms and to continue seeking the help of a medical professional to manage the findings and properly confirm a diagnosis.

First, you can inform patients that test manufacturers often claim to have evidence that theyre more helpful than harmful, but they usually lack scientific studies to back this up. It also helps to use examples.

Take genome testing, for instance. A negative result in a health trait could lead to a false reassurance while a positive trait discovered without the appropriate counseling could lead to wrong medical decisions.

Consumers who consider participating in direct to consumer (DTC) genetic testing must be aware of the limited results that they will receive and the types of questions that they will have to anticipate in the follow-up of the results, according to the ACMG.

RELATED: You Know About the Importance of the Social Determinants of Health Now What?

You can also refer them to the appropriate medical foundation for their concerns, as many are attempting to quell the home-testing fervor by offering deeper explanations online. The Parkinsons Foundation, for example, explains proper gene testing for the disease includes genes GBA, PARK7, SNCA, LRRK2, parkin and PINK1. At-home kits only review mutations in LRRK2 and GBA.

And last, hit home that at-home tests are meant to help patients, but for most, the technology isnt advanced enough to be a final diagnosis to any medical concern.

Of all the tests available to patients, the most reliable are hormonal tests for women. Pregnancy tests can be up to 99 percent accurate, if performed correctly, and fertility tests are also very reliable.

Luteinizing hormone(LH) is typically very low in the body but has found to spike up to three times right before the release of an egg, Dr. Stovall says. (Patients should use the test every day until they see the spike to know when they are ovulating.)

These same tests can predict menopause for older women. The average age of a woman hitting menopause is 51.2 years. The closer to that age when a woman takes this test, it can indicate she is perimenopausal or menopausal, he says.

Although the technology to provide accurate results with most at-home tests is not 100 percent, manufacturers are finding consumers wanting more of these tests to manage their own care. This is not a bad thing, says Dr. Stovall.

RELATED: 7 Cant-Miss Talking Points When Patients Ask You about Trying Cannabis

This industry is going to grow over time, he explains. There are at-home tests for so many things, such as EKG tests, blood sugar tests overall these tests are good things and help get patients on board with their health.

The problem is the discrepancy between the tests accuracy and how much a patient trusts its resolve, which can lead to unnecessary anxiety or postponing seeking necessary care.

As more research is done, we can use these tests for diagnosis and testing can become more helpful to a patient, Dr. Stovall adds. Its too early right now, but it doesnt mean they wont be perfected.

Read the rest here:
The Pros and Cons of At-Home Testing for Patients: What Clinicians Should Know - Florence Health

Rare diseases despite the infrequency that the name confers cumulatively affect around 350 million people worldwide. This figure includes roughly seventy million Indians. Could genome sequencing prove to be the tool that begins to spark medical innovation and diagnosis for the millions affected by such disorders?

The Economic Times notes a recent case in which genome sequencing has proven to be an effective means of diagnosis for conditions classified as rare diseases. A woman, who was at the time three months pregnant, came to see a paediatrician at Government Medical College in Kozhikode wanting to know if there was a way to find out if her unborn child could develop a rare immune disease her firstborn was suffering from.

The article notes that the white blood cells in her six year-old daughters body behaved abnormally, leading to organ infections and rimpaired growth. Doctors, so far, had been unable to cure the girl, she said. While the name of the condition is never revealed in the article, many rare diseases also fall under the categorisation of autoimmune disorders, such as Ashersons syndrome.

The woman underwent an antenatal procedure to retrieve genetic material from the unborn child. This was analysed and compared to genetic testing performed on the six-year-old daughter. The tests brought the welcome news that the womans baby would not have the same genetic disorder as her previous child.

This test had the luxury of comparing directly to a relative. However, most testing has to be compared to databases with one major drawback. No reliable genetic information of Indians is available and for research, our scientists have to rely on gene data banks from the US and the UK or of Caucasians, said Council of Scientific and Industrial Research (CSIR) director-general Shekhar C. Mande.

As of now, Indian genomes only represent 0.2 percent of the global genetic databanks. The current majority of genomes around 96 percent are of European ancestry. Ignoring the study of Indian genes leaves what could be a medical goldmine all but untapped.

Previous genomic studies conducted in India have uncovered genes exclusive to the Indian population that present a unique risk in developing diabetes. Knowledge of risks such as these can allow for the Indian medical system, as well as government policy, to be better informed when making decisions regarding disease prevention and treatment.

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Is genome sequencing the answer to rare diseases? - Hyderus Cyf

life-style, life,

For the average couple, we give the lifestyle advice to stop smoking and to cease drinking alcohol when trying to conceive. Ensuring you have a healthy diet and are exercising regularly are also important. These general changes will improve the chance of getting pregnant and will give you a much less complicated pregnancy. Achieving a healthy weight before pregnancy is very important in improving ovulation and increasing the chance of spontaneous conception. For men, a healthy weight will improve the quality of his sperm. For women it will help them to have a healthier pregnancy (such as reducing the chance of developing gestational diabetes) and assist with easier delivery and recovery. We also need to consider those with underlying medical problems such as diabetes, high blood pressure and epilepsy. It is always advisable to make sure that they have those conditions well under control before they get pregnant. For example, uncontrolled diabetes can increase the chance of fetal anomaly, pre-eclampsia can also affect the placenta function and increase the risk of growth restriction. There are certain medications that are not safe to take when you are pregnant. It is advisable to review all your medications with your doctor to change to safe in pregnancy medication if possible. Pregnancy multivitamins and folic acid (which reduces the risk of neural tube defects) should be taken at least three months before you are planning to become pregnant, or as soon as possible once you do fall pregnant. Taking omega 3 does have lots of value in pregnancy. It helps the fetus brain development as well as reduce postpartum depression. You should see your doctor about checking things such as your iron level and thyroid function, which require a simple blood test. Your vaccination status also needs to be checked, because we want to make sure you are immune to certain things like measles, mumps and rubella. By doing this before you are pregnant, we have that opportunity to give you the appropriate vaccinations to make sure you are immune by the time you get pregnant. There has been more and more things in the media about genetic testing and what couples need to be aware of, so see your doctor for the correct advice because there's a lot of information available. Pre-pregnancy genetic testing While genetic testing is becoming more widely available, it is not vital unless you are at a high risk of passing on specific conditions. This could be couples with a previous child affected with some genetic problem, or those with a strong family history of genetic abnormalities (like cystic fibroisis, sickle cell disease, heart defect, cleft lip or palate). If you think you might be in this high-risk category you should see a genetic counsellor to discuss what tests you may need, and what the risks are of such occurrences. If a couple is using IVF to conceive there is an option to do a pre-implantation genetic test. The embryos can be tested for certain conditions prior to embryo transfer. It's a good idea to research your family medical history so that your doctor can determine whether genetic testing should be done and whether you fit into the low risk or high risk category for these. The Royal Australian and New Zealand College of Obstetricians and Gynaecologists has patient information about genetic screening on their website.

https://nnimgt-a.akamaihd.net/transform/v1/crop/frm/eV5wxSqxRk6zfLmD5bhc9J/80b3e18a-b912-4a0a-a953-8898bdfb95c9.jpg/r0_242_4925_3025_w1200_h678_fmax.jpg

November 19 2019 - 6:00AM

For the average couple, we give the lifestyle advice to stop smoking and to cease drinking alcohol when trying to conceive. Ensuring you have a healthy diet and are exercising regularly are also important. These general changes will improve the chance of getting pregnant and will give you a much less complicated pregnancy.

Achieving a healthy weight before pregnancy is very important in improving ovulation and increasing the chance of spontaneous conception.

For men, a healthy weight will improve the quality of his sperm.

For women it will help them to have a healthier pregnancy (such as reducing the chance of developing gestational diabetes) and assist with easier delivery and recovery.

We also need to consider those with underlying medical problems such as diabetes, high blood pressure and epilepsy. It is always advisable to make sure that they have those conditions well under control before they get pregnant.

For example, uncontrolled diabetes can increase the chance of fetal anomaly, pre-eclampsia can also affect the placenta function and increase the risk of growth restriction. There are certain medications that are not safe to take when you are pregnant. It is advisable to review all your medications with your doctor to change to safe in pregnancy medication if possible.

Pregnancy multivitamins and folic acid (which reduces the risk of neural tube defects) should be taken at least three months before you are planning to become pregnant, or as soon as possible once you do fall pregnant. Taking omega 3 does have lots of value in pregnancy. It helps the fetus brain development as well as reduce postpartum depression.

You should see your doctor about checking things such as your iron level and thyroid function, which require a simple blood test. Your vaccination status also needs to be checked, because we want to make sure you are immune to certain things like measles, mumps and rubella.

By doing this before you are pregnant, we have that opportunity to give you the appropriate vaccinations to make sure you are immune by the time you get pregnant.

There has been more and more things in the media about genetic testing and what couples need to be aware of, so see your doctor for the correct advice because there's a lot of information available.

Pre-pregnancy genetic testing

While genetic testing is becoming more widely available, it is not vital unless you are at a high risk of passing on specific conditions. This could be couples with a previous child affected with some genetic problem, or those with a strong family history of genetic abnormalities (like cystic fibroisis, sickle cell disease, heart defect, cleft lip or palate).

If you think you might be in this high-risk category you should see a genetic counsellor to discuss what tests you may need, and what the risks are of such occurrences.

If a couple is using IVF to conceive there is an option to do a pre-implantation genetic test. The embryos can be tested for certain conditions prior to embryo transfer.

It's a good idea to research your family medical history so that your doctor can determine whether genetic testing should be done and whether you fit into the low risk or high risk category for these.

The Royal Australian and New Zealand College of Obstetricians and Gynaecologists has patient information about genetic screening on their website.

Read the original here:
Q: What do I need to know before trying for a baby? - The Canberra Times

Genetic IQ tests. DNA detective work. Virtual drug trials. These were some of the surprising new uses of DNA information that emerged in the last 12 months, when genetic studies became more extensive than ever before.

Think back to the year 2003. We had just deciphered the first human genome, and scientists were still looking for very specific genetic errors that cause serious hereditary diseases such as muscular dystrophy. Now, however, we are dealing with information about millions of genomes. And the hunts are not just bigger they are fundamentally different. They begin to uncover the genetic roots of common diseases and personality traits, and they make the genetic privacy as good as impossible.

Here are the trends you need to know WITH Technology ReviewOwn reporting last year.

Consumer: It's all about genetic data. Now it is being collected by millions of people, both national and commercial.

Last February, we reported that as many as 12 million people had DNA tests on consumers. Since that number has reliably doubled every year, it's likely to be up to 25 million. In fact, DNA reports are now a mass product. During the Thanksgiving weekend, AncestryDNA's genetic test, which reveals where her ancestors came from, was among the best-selling items.

Big data: To understand the genome, scientists need to study as many people as possible simultaneously. In 2018, several hunts exceeded the million-person mark for the first time. These included the search for genetic foundations for insomnia and educational success. To this end, the researchers used national biobanks and received support from 23andMe, the well-known genetic testing company whose users can register to participate in research.

Polygenic scores: Some diseases are due to a single gene that goes awry. But big killers like heart disease are different instead, they're influenced by hundreds of genetic factors. Because of this, a new method for predicting risks from the entire human genome was the most important story of the year (see polygenic scores on our list of 10 groundbreaking technologies). The new findings may affect a person's chances of getting breast cancer, going through college, or even being big enough for the NBA. In 2019, keep an eye on genetic testing companies such as 23andMe and Color Genomics to see if they are commercializing such gene predictions.

Genetic IQ tests: Genes do not just influence how we look, but who we are. Now some scientists say that the same DNA scores can give a reliable idea of how intelligent a child will be later in life. The unanswered question: how should we use this information, if at all?

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To test embryos: Yes, that is probably how it will be exactly like this science fiction movie Gattacaabout a world where parents pick their children out of a petri dish. IVF centers are already conducting genetic tests and parents are picking embryos to avoid certain serious disease risks. Now, Genomic Prediction, a New Jersey company we presented exclusively in 2017, is ready to test embryos to assess their future educational potential. So forget about CRISPR babies designer kids are already here.

Racist prejudices: Here is something that is not so great: About 80% of the DNA ever analyzed comes from Whites of European descent. This means that some new discoveries and commercial tests only work with whites and do not apply to Africans, Asians, Latinos or other ancestor groups whose genetic patterns are different. There are good scientific reasons to expand the gene hunt, says the geneticist of Stanford University, Carlos D. Bustamante. We may miss health breakthroughs if we look too closely.

Imitation of clinical studies: Did you know that you are part of a gigantic, random experiment? This is true. Or at least some geneticists see you like that. And now they've come up with a very clever trick called Mendelian Randomization that uses human medical information to predict which new medicines work for them and which do not.

Crime fighter: The more DNA data you have, the easier it is to find out who owns a drop of blood or a hair follicle. That's what the Golden State killer experienced in April, when he was caught in the nuisance of using an informal collection of DNA profiles and genealogical trees. In fact, the genetic anonymity of how mathematics works is broken because pretty much all of us already have a relative in a DNA database. A genetic genealogist, CeCe Moore, told us that she has identified 27 murderers and rapists since April. A very good year.

Read the rest here:
All the reasons why 2018 was a year of the outbreak of DNA data - asume tech

Nov. 12, 2019 14:00 UTC

LOS ALTOS, Calif. & FAIRFIELD, Calif.--(BUSINESS WIRE)-- GenomeSmart, a Silicon Valley-based company delivering the first and only AI-powered genetic risk assessment and test recommendation platform to improve access to genetic testing, announced today that NorthBay Healthcare, an independent nonprofit health system in Northern California, has selected the GenomeBrain Platform for a pilot program planned to improve the routine use of genetic testing in patient care.

Weve looked at many options to support our providers but the GenomeBrain Platform offered us more of the critical features we wanted plus gave us the ability to customize to our needs, said Lori Muir, Oncology Services Director. NorthBay Healthcare is dedicated to delivering best-in-class oncology care to the patients we serve and we believe ensuring easy access to genetic testing is a critical part of those vital services. Were looking forward to working with GenomeSmart to support our providers in better identifying patients for testing, efficiently tracking available tests, and speeding access to hereditary risk results.

"This approach to screening patients will make it much easier for people to understand why and when genetic testing can impact their healthcare decisions. We are bridging an educational gap that, until now, has made access to genetic testing difficult. Our patients will no longer wonder if genetic testing is right for themthey will know before they even come in to see me," added Karen Vikstrom, MS, Certified Genetic Counselor, NorthBay Healthcare.

The NorthBay Healthcare pilot program will be completed in conjunction with the NorthBay Breast Cancer Program. The pilot is designed to ensure patients with breast cancer receive treatment based on genetic risk and to scale testing into routine care for healthy women and men to identify potential hereditary risks, ensuring appropriate access to screening and care programs. The GenomeBrain Platform will be incorporated into the current patient workflow and evaluated for effectiveness and ease of use.

The GenomeBrain Platform is accessed online through a mobile phone, tablet, or desktop device. The simplified experience first builds a patient profile, including their relevant personal medical history, family medical history, ethnicity and age, and then instantly matches them to the appropriate genetic tests based on the latest medical guidelines for genetic testing. GenomeBrain uses AI to ingest large amounts of data from patient history, genetic tests available on the market, and medical guidelines to simplify a cumbersome manual process that usually takes days to less than ten minutes on average.

Were thrilled to be partnering with NorthBay Healthcare on this important initiative, said Sanjay Sathe, CEO and co-founder, GenomeSmart. The NorthBay teams agility and interest in innovative approaches to care make them the ideal partner for us. They are able to implement efforts quickly and provide personalized care to their local community that rivals many larger urban-based institutions, all for the betterment of their patients.

About GenomeSmart

GenomeSmart is on a mission to make genetic testing available to everyone. In May 2019, the company launched GenomeBrain, the first and only AI-powered genetic risk assessment and test recommendation platform that matches and identifies people who could benefit from genetic testing. The affordable GenomeBrain Platform multi-functional solution is available to help genetic counselors, physicians, hospital systems, genetic testing labs, insurance companies, and corporations improve the effective use of genetic testing to save lives, improve quality and reduce costs of healthcare.

About NorthBay Healthcare

NorthBay Healthcare opened its first hospital in 1960 and remains Solano Countys only locally based, locally managed nonprofit health system. NorthBay Medical Center in Fairfield and NorthBay VacaValley Hospital in Vacaville offer 24-hour emergency care, intensive care, and sophisticated surgical and diagnostic services. NorthBay Cancer Center, located on the Vacaville campus, opened more than 30 years ago. NorthBay Healthcare is a member of the Mayo Clinic Care Network, giving its patients access to world-renowned physicians and Mayo Clinic research.

View source version on businesswire.com: https://www.businesswire.com/news/home/20191112005437/en/

See more here:
GenomeSmart and NorthBay Healthcare Launch Pilot to Improve Access to Genetic Testing with GenomeBrain - BioSpace

I just attended theNational Society of Genetic Counselors Annual Meetingin Salt Lake City, UT where I met some of the brightest minds in genetics, heard about mind-bending new technologies, and was reminded of the many ways that genetic counseling and testing is improving health, transforming lives, and driving precision medicine forward.

With that bright promise freshly in mind, several recent stories have cast a stark reminder of the ways genetic testing can, andis,being used nefariously.I published an article on this topicjust a few short weeks ago and didnt foresee that it would need a part II so soon. Consider the following:

The Trump administration already announced that they would require DNA samples from asylum-seekers at the Mexican border for rapid DNA testing to confirm family relationships.In a move called transparently xenophobic in its intention, the Trump Administration now plans to collect DNA from individuals in federal immigration custody and add those samples to the national FBI crime database.

MIAMI : A judges gavel rests on top of a desk (Photo by Joe Raedle/Getty Images)

A Judge in the Floridas Ninth Judicial Circuit Court signed a warrant allowing a detective to successfully obtain a warrant to search GEDMatchs genetic database,even for users who opted out of appearing in police search results.This decision brings into question whether larger databases, like those of 23andMe and Ancestry, are subject to the same sort of warrants, despite their privacy policies.23andMe does not believe that this decision impacts them, but that remains to be seen.However, it is possible that any privacy policyis only as strong as a police departments ability to get a willing judge to sign a search warrant.

NEW YORK, NY - JUNE 20: (Photo by Santiago Felipe/Getty Images)

A recent genetic study on homosexualityraised eyebrows for many reasons, including that it appeared that homosexuality was being positioned as a condition or worse yet a disease to study and understand.An informativeDNA Exchange blogpost by certified genetic counselor Austin McKittrickeloquently outlined the issues, including that the study utilized data from the UK Biobank and 23andMe.Consumers consenting to 23andMe research studies may falsely believe that their data are being used only to further critical health care problems, like finding a treatment for Parkinsons disease, rather than for research that could potentially lead to discrimination or stigmatization of groups of people.Within days of this research being published an app called GenePlaza was developedthat, for about $5, could tell you how gay you are.Can you imagine this app being used at a middle school slumber party, with results posted to social media?But worse yet, the apps developer is based in Uganda,a country that announced plans that it would make homosexuality punishable by the death penalty.

Now, for just a moment, think about these three developments in unison.Our government is requiring DNA collection for immigrants in custody and those samples will enter our federal crime databases.Large databases, even for consumer entertainment, are subject to search warrant.Genetic data are being collected and used to make associations (accurate, or not) to a trait that may be punishable by death in some countries.

If we have been waiting for a sign thatwe need federal, or international, protections for genetic data and how it can be used, we now have that sign.

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Waiting For The Sign that Protections Are Needed For Genetic Data? Here It Is. - Forbes