Controlling the genetic genie

By Catherine
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Written by Catherine Bolgar

Advances in genetic sequencing techniques and discoveries about our DNA are helping to identify inherited diseases, and someday may lead to treatments or personalized medicine. But can regulation keep up with the science, securing the health benefits, while protecting those whose test results bring bad news?

Genetic tests promise great insights. They may diagnose disease or find the mutated gene responsible. They can detect whether a genetic disorder could be passed on to children, and which disorders in newborns might need early treatment. And tests can identify biological relationships, as well as victims of crime or catastrophe.

There are about 4,000 to 5,000 diseases that can be tracked back to a mutation in a known gene,” says Alastair Kent, director of Genetic Alliance U.K., in London. “There are probably more but the gene hasn’t yet been identified. They are rare, and most are incredibly rare.”

About 80% of inherited diseases become apparent soon after birth or in early childhood, he says, and most are fatal by age five. There are about 400 rare genetic conditions for which treatments can improve and prolong life, and some recent therapies may cure some people, Mr. Kent says, but “it’s too soon to tell.”

The most prevalent diseases caused by a single gene are Down syndrome, blood-related disorders such as thalassemia, sickle-cell anemia and hemophilia, followed by cystic fibrosis, Tay-Sachs disease, Fragile X syndrome and Huntington’s disease.

Cystic fibrosis treatments have improved life spans, but Huntington’s, a degenerative brain disorder, has no cure—and anyone with the genetic mutation is certain to get the disease. Understandably, people want to test for a late-onset genetic disease usually because a family member already has it. Knowing whether they too are carriers could influence important life decisions, such as whether to have children or retire.

However, you can’t just say, “do my genome,” Mr. Kent notes.

Having a defective gene, such as APOE-e4 for Alzheimer’s, or BRCA1 for breast cancer, doesn’t always lead to the disease. Women with BRCA1, for example, sometimes choose to have a mastectomy to reduce the risk.

Given the difficulties associated with such decisions, most countries try to protect genetic privacy. The European Union requires patient consent for disclosure of genetic information and bans discrimination based on genetic features. In the U.K., insurers have agreed not to ask for predictive genetic test results except for policies above £500,000 ($757,000). In the U.S., the Genetic Information Non-Discrimination Act prohibits discrimination by employers or insurers on genetic grounds.

Companies that conduct genetic tests directly for consumers also guard client privacy. 23andMe, a personal genetics company (named after our 23 pairs of chromosomes) based in Mountain View, Calif., has more than a million genotyped customers. Their data is stripped of personal identifiers such as name, address or email, and aggregated with other data, according to Emily Drabant Conley, vice president of business development.

Though the volume of genetic data is expanding, testing can accomplish only so much. “We don’t have the knowledge to interpret the information that comes out of sequencing except in a relatively small proportion of cases,” Mr. Kent notes.

While some genetic mutations will always result in the related disease, in many cases, it’s not possible to give an exact risk of developing a disorder or to predict its severity. Genetic alterations are not always informative—after all, we all have DNA variations.

“Certain conditions and diseases are genetically determined. There are a number of Mendelian diseases that are almost completely determined by your genes—for example, conditions like Tay-Sachs, cystic fibrosis, and sickle cell anemia. In other cases, genetic factors may increase or decrease a person’s risk for a particular condition, but environmental and lifestyle factors also play a role,” Ms. Drabant Conley says.

In 2009, an Italian court reduced the prison sentence of a convicted murderer after discovering that he carried genetic variants associated with a predisposition to aggressiveness.

“But if you look at people who carry that mutation, some have a fairly aggressive personality but others are successful entrepreneurs,” says Mr. Kent. “You have to be extremely careful in associating complex behavioral characteristics with underlying genetic structures.”

Catherine Bolgar is a former managing editor of The Wall Street Journal Europe. For more from Catherine Bolgar, contributors from the Economist Intelligence Unit along with industry experts, join the Future Realities discussion on LinkedIn.

Photos courtesy of iStock

CES 2016 Social Media Recap from Dassault Systèmes

By David G.
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Civil Design Case Study: Yanggao South Road Tunnel

By Akio
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The following article is excerpted from Civil Design Innovation, a whitepaper developed by Dassault Systèmes and SMEDI. To read more, download the full whitepaper here

clicktotweetClick to Tweet: “[CASE STUDY] SMEDI uses #BIM
platform to design & deliver Yanggao South Road Tunnel”

Yanggao South Road Tunnel

The reconstruction of the Yanggao South Road covered the area between the current Century Highway and the Pujian Road cross-route bridge, and measures a total of 1.95km (1.2 mi).

The road, tunnel structure, Zhangjiabin Bridge, rain sewage pipeline, traffic sign and lines, signal lights, ventilation, monitoring system, power transmission and distribution, architecture, greening, and related equipment—as well as the initial greening and pipeline relocation—cost RMB ¥1.455 Billion in construction and installation, with the total investment amounting to RMB ¥2.47 Billion [USD $386 Million].

SMEDI Yanggao Tunnel DASSAULT1

The Dassault Systèmes 3DEXPERIENCE platform version R2015x was selected as the BIM platform for the entire process. SMEDI realized the following benefits by adopting the 3DEXPERIENCE platform:

Data Security

The platform adopts the Cloud platform and the structure model of the central server to unify the database of the project. This provides reliable data security protection for the project.

Ease of Simulation

The platform supports the type expansion of the BIM model and adopts the approach of self-defined uniform type in the Yanggao South Road Project. The side-stones, parapet, and asphalt in the tunnel structure are laid out in a unified manner. This gave great convenience to the latter-stage quantitative surveying and simulated implementation.

SMEDI Yanggao Tunnel DASSAULT2

Cross-Model Clash Detection

With the multi-disciplinary, real-time-coordinated BIM platform, the design professionals in the structure, bridge and pipeline fields can carry out real-time design work on the same platform. This synchronized modeling function can instantly identify any errors in the design process and quickly check for any mutual interference between different models.

clicktotweetClick to Tweet: “SMEDI used #BIM for cross-model
clash detection before constructing a tunnel in China”

Workflow for Large-Scale Modeling

The BIM modeling workflow approach on the 3DS platform has been initially formed. The current software format can support a large-scale data model for a 100km roadway. The entire BIM area covers the initial solution design, the intermediate detailed structure design, the latter-stage implementation simulation, and project reporting.

Efficiency of Templates

The innovative re-use function of the knowledge template library can, with the template function provided by CATIA®, rapidly exemplify the different components in the tunnel structure, thereby avoiding duplication in modeling and enhancing working efficiency.

SMEDI Yanggao Tunnel DASSAULT3

In the demonstration and proofing stage of the project solutions, the BIM technology was introduced to visualize the 3D design, to compare the various solutions, and to optimize them. Satisfactory results were achieved in the briefing sessions for government leaders and the project owners.

In the design stage, both BIM and regular design methods were employed, and the design results were checked to help ensure that the quality of the design drawings was secured.

In the tendering stage for the construction, the joint design team made a significant breakthrough in estimating quantities of building materials based on BIM, and successfully acquired from the BIM information the quantities of concrete and steel for the main structure, and those used to protect the structure. 65% of the estimate was checked against the traditional calculations, and was used in the checklist for the formal tendering of the project.

clicktotweetClick to Tweet: “#CivilDesign Innovation Whitepaper,
feat. SMEDI’s Yanggao Tunnel project”

SMEDI Yanggao Tunnel DASSAULT4

Download the whitepaper to keep reading.

Civil Infrastructure Whitepaper by 3DSExcerpted from Civil Design Innovation, a Dassault Systèmes Whitepaper

Download the full whitepaper here: Civil Design Innovation | Innovative Industrialization Methodologies Achieve Breakthroughs in Civil Design

This whitepaper provides a broad overview of the latest innovations and breakthroughs in civil design and construction, as well as the challenges faced and the solutions devised to achieve higher quality and improved efficiency.

Written jointly by Dassault Systèmes and the Shanghai Municipal Engineering Design Institute (SMEDI).

Related Resources

Civil Design, an Industry Process Experience from Dassault Systèmes

Civil Design for Fabrication, an Industry Solution Experience from Dassault Systèmes

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