2008 March

BioMarker Pharmaceuticals Launches the Gene Essence Test

by Dr. Hsien-Hsien Lei
Posted March 31, 2008 in DNA Products, DNA Testing

Personal genomics customers can’t complain that there’s no competition in the marketplace. San Jose, California-based company BioMarker Pharmaceuticals has launched the Gene Essence test that sounds like another genome scan service.

Based on recent advances in DNA analysis technology, the Gene Essence(TM) test provides customers with personalized genetic information that is unique to each individual. The web-based service enables customers to learn which inherited traits they may have acquired and provides individuals with access to the latest research results in the rapidly expanding field of genome analysis. Customers can learn how the genetic markers in their genomes relate to a large number of health-related conditions which have been published in peer-reviewed scientific literature.

Dr. Ivan Labat, Sr. Director of Research and Product Development, claims the Gene Essence test is “the most comprehensive personalized genetic test available.” That may be but I can’t find the product on the BioMarker Pharmaceuticals website so even if I wanted to, I wouldn’t know how to order it!

Other products offered by BioMarker Pharmaceuticals include aging intervention technologies incorporating nutraceuticals BM-A1 and BM-A2, “proprietary herbal combination formulas.” The company is also doing research into calorie restriction.

NB: I’ve emailed the company for more info.

Update: I missed the Gene Essence website in the press release – http://GeneEssence.com (the site seems to take a long time to load in Firefox).



Genes May Increase Chance of Baby Born Breech

by Dr. Hsien-Hsien Lei
Posted March 31, 2008 in DNA and Disease

newbornAt my 30-week prenatal visit last week, the doctor told me the baby was in a transverse position. Hopefully she’ll get her little rear in gear at my 34-week visit and be head down unless she wants to be really ornery as only about 3 percent of babies are breech at birth (buttocks or the feet down). Her older brother was in the “correct” position almost the entire time so I can tell she’s going to be a handful!

Risk factors for breech delivery include:

  • First baby
  • Older mother
  • Low gestational age
  • Low birth weight
  • Uterine malformations
  • Pelvic tumours
  • Site of placental attachment
  • Low volume of amniotic fluid
  • Congenital anomalies

Breech delivery is associated with increased perinatal mortality and morbidity.

One reason I’m not worrying too much is because a large population-based study in Norway was published last week in BMJ that showed breech deliveries are more common if the baby’s parents were born breech themselves. I know I was not born breech and I’ll assume my husband wasn’t either or my mother-in-law would have mentioned it. If the mother or father was born breech, their baby has an approximately 2-fold increase in odds of being born breech as well. The authors conclude:

Intergenerational recurrence risk of breech delivery in offspring was equally high when transmitted through fathers and mothers. It seems reasonable to attribute the observed pattern of familial predisposition to term breech delivery to genetic inheritance, predominantly through the fetus.

They also recommend that parents who were born breech inform their healthcare providers so their babies can be more closely monitored if necessary.

Please cross your fingers for me!

Image: Newborn baby from Wellcome Images under Creative Commons

(1 comment)


What’s in your DNA? #27

by Dr. Hsien-Hsien Lei
Posted March 30, 2008 in In Your DNA

Scott Adams of The Dilbert Blog on pain leveling when the less happy person transfers some of his/her pain to the more happy one:

…I overheard a kid bragging about something that was going well for him. The other kid reflexively called him a bragger and did a few other tricks to level the pain. I think this instinct is built into our DNA.

barack obamaFrom Barack Obama’s speech on race:

I am the son of a black man from Kenya and a white woman from Kansas. I was raised with the help of a white grandfather who survived a Depression to serve in Patton’s Army during World War II and a white grandmother who worked on a bomber assembly line at Fort Leavenworth while he was overseas. I’ve gone to some of the best schools in America and lived in one of the world’s poorest nations. I am married to a black American who carries within her the blood of slaves and slaveowners – an inheritance we pass on to our two precious daughters. I have brothers, sisters, nieces, nephews, uncles and cousins, of every race and every hue, scattered across three continents, and for as long as I live, I will never forget that in no other country on Earth is my story even possible.

It’s a story that hasn’t made me the most conventional candidate. But it is a story that has seared into my genetic makeup the idea that this nation is more than the sum of its parts – that out of many, we are truly one.

Kristina Chew at Autism Vox on her son Charlie’s autism:

I think that autism is genetic. When I consider some of the conditions or disorders (or whatever you might want to call them) in Jim’s and my own family history—-ADHD, OCD, anxiety, depression, various other things—-I have to say, Jim and I always figured that we’d have a child with “something,” though not necessarily with as severe of a condition as Charlie has.

Charlie and Kristina were also included in a recent Newsweek feature on autism – Mysteries and Complications.

(>> Start a discussion!)


DNA Podcast: Futures in Biotech Interview with Dr. Richard Lifton

by Dr. Hsien-Hsien Lei
Posted March 29, 2008 in DNA Podcasts and Videos

powered by ODEO

Futures in Biotech 28: One of the Greatest Quests in the World of Genetics

Host: Marc Pelletier

Dr. Richard Lifton has been on a quest to understand the genetic basis of hypertension, the most important risk factor associated with cardiovascular disease, which affects nearly a billion people worldwide

(>> Start a discussion!)


Eye on DNA Headlines for 28 March 2008

by Dr. Hsien-Hsien Lei
Posted March 28, 2008 in DNA Testing, Eye on DNA Headlines, Jobs Involving DNA

(>> Start a discussion!)


DNA Quote: Merchants of Immortality by Stephen S. Hall

by Dr. Hsien-Hsien Lei
Posted March 28, 2008 in DNA Quotes and Excerpts

merchants immortality

This was keyboard biology: you could type in the DNA letters of the gene for telomerase found in yeast or Euplotes just as you would type a word or phrase into a search engine like Google, punch a button, and send supercomputers electronically scurrying through vast digital tracts of human DNA sequences, looking for a proximate match – that is, for homology.

~Merchants of Immortality by Stephen S. Hall

Tags: , , , ,

(>> Start a discussion!)


DNA Testing for U.S. Immigration

by Dr. Hsien-Hsien Lei
Posted March 26, 2008 in DNA and the Law

statue libertyAllan Wernick of New York Daily News answers an anonymous question about the use of DNA testing for U.S. immigration.

Q I am a U.S. citizen. I want to petition for my father, but his name isn’t on my birth certificate. Must we have a DNA test to prove our relationship?

Name Withheld, Brooklyn

A A DNA test is the best way to prove a father-child relationship. Properly done DNA tests are 99.9% accurate in determining fatherhood. However, the test is expensive. An alternative is providing “secondary evidence.” Examples of secondary evidence are affidavits from your mother or a friend or relative who has knowledge of your relationship, an affidavit from someone present when you were born, or a copy of a page from a family Bible or other document recording your birth.

Sometimes using secondary evidence causes delays. What would I do? If your father is in the United States and interviewing for permanent residence here, try proving your relationship without the DNA test. If he will be applying at a U.S. consul abroad, getting the test before he goes to his interview may be worth it. A U.S. consular officer may question your relationship even if the USCIS has already approved your petition. If that happens, your father could get stuck abroad for a long time. Of course, if money is not an issue for you, go ahead and do the test. That way you can be sure that no one will question your relationship.

Wernick refers readers to the U.S. Department of State Bureau of Consular Affairs – DNA and Parentage Blood Testing. The document explains the different types of parentage testing, including nuclear DNA testing and mitochondrial DNA testing. There’s also a discussion of parentage blood testing that analyzes basic red cell antigens, extended red cell antigens, red cell enzymes and serum proteins, and white cell enzymes. I’m assuming parentage blood testing is less expensive than DNA testing or there’s no reason why applicants would not opt for the more straightforward DNA tests.

Note that for legal purposes, those $99 at-home paternity tests won’t suffice because they are undocumented and DNA samples are collected at home and mailed by the participants. When DNA test results are required by a court of law or for immigration purposes, a chain-of-custody DNA test is needed in which an uninvolved third party would vouch for the identification of the parties being tested, including photographs and fingerprints. DNA samples are clearly documented and tracked throughout the process. For more information, see these top 5 commonly asked questions about chain-of-custody DNA testing from DNA Diagnostics Center*.

*I have no direct affiliation with this testing company.



Ethics of Whole Genome Research

by Dr. Hsien-Hsien Lei
Posted March 25, 2008 in DNA and the Law, DNA in General

Yesterday, I touched on how consumers can prepare to use their genetic information to gain access to personalized medicine. On a related note, consumers should also be prepared to consider options for contributing their genetic information to research efforts. Commercial companies, such as 23andme, have made no secret of their desire to use their customers’ data for “the greater good.”

While we measure many hundreds of thousands of data points from your DNA, only a small percentage of them are known to be related to human traits or health conditions. The research community is rapidly learning more about genetics, and an important mission of 23andMe is to conduct and contribute to this research. By obtaining 23andMe’s services, you are agreeing to contribute your genetic information to our research efforts as described below. These efforts could translate into meaningful information about your genetics. [emphasis added]

human genome

The ethics of whole genome research in both the private and public sectors are explored in a consensus statement published in PLoS Biology. The following considerations are mentioned and recommendations for the first four are given.

  • Consent
  • Duty to recontact study participant
  • Right to withdraw from research
  • Return of research results
  • Public data release
  • Commercialization
  • Patenting
  • Benefit sharing
  • Genetic discrimination

I must admit that discussion of ethics generally baffles me because I get so caught up on both sides (or maybe there are more than two sides?!). So I direct you to the Predictive Health Ethics Research (PredictER) Blog for further discussions of thorny issues surrounding genetics. PredictER is based at the Indiana University Center for Bioethics.



Consumer Genomics and Personalized Medicine

by Dr. Hsien-Hsien Lei
Posted March 24, 2008 in DNA and Disease

medicinePharmaceutical companies are searching through their dusty shelves and archives to find drugs in abandoned pipelines that may be potentially effective in groups of people defined by their genetic make-up. The Wall Street Journal reports that personalized medicine is gathering speed:

While the markets for these therapies are smaller than for those that treat the general population, pharmaceutical companies are realizing there are hefty profits to be made because patients are more likely to use, and stick with, a tailored medicine that works better than a one-size-fits-all drug.

Of course, personalized medicine is dependent upon genetic information to succeed. Prior to consumer genomics, access to genetic testing was limited to those who could find a genetic counselor or medical geneticist within a reasonable physical distance. With the Internet and DNA technologies combined, however, it is now possible for patients to develop a personalized medicine strategy with the help of in-house genetics experts at companies that offer consumer genomics.

Even at this early stage of consumer genomics and personalized medicine, consumers can already use genetic information to prevent or treat disease either in themselves or their offspring. Pharmacogenomics is particularly useful for helping patients and their physicians determine treatments and dosages that are the most effective yet with the fewest side effects. Consumers can access many of the genetic tests with or without the help of their personal physician via companies that offer direct-to-consumer genetic testing*. Some of these companies offer genetic counseling services and other resources to help consumers understand their test results and take action. Others, such as nutrigenomic companies, also sell supplements that purportedly address perceived genetic deficiencies.

In one of this month’s JAMA commentaries, Drs. Feero, Guttmacher, and Collins list the following obstacles confronting personalized medicine:

  1. Not enough information on prevalence and risk conferred by genetic markers across population groups
  2. Unclear inheritance of multiple markers and effects on risk of disease
  3. Incomplete picture of gene x environment interactions
  4. Not enough studies on common diseases and effect of interventions based on genetic risk factors
  5. Limited evidence of benefit for personalized medicine esp. when there are no clinical studies
  6. Fear of genetic discrimination

The authors conclude that education of health care professionals and the general population is necessary. Despite all the news about developments in genomic technology, consumers still have much to learn. The key to helping consumers decide which genomic services they need and which are nice to have, but not necessary, is to empower them with information.

Within the decade, genetics experts predict that genome sequencing will no longer feel like a breakthrough and costs will drop to about $1,000 per genome. Point-of-care or point-of-use handheld devices will make it even easier to incorporate consumer genomics into medical care. iphoneThese portable machines will be able to analyze whole blood in the clinic and deliver genetic testing results within minutes. Other portable machines would be targeted to consumers for personal use and would possibly contain data from an individual’s complete genome linked to a database of relevant disease information that can be easily updated via the Web. Jay Flatley, CEO of Illumina, already has his “genotype” on an Apple iPhone.

The intersection between consumer genomics and personalized medicine is about more than breakthroughs in technology. It is also about a change in the way consumers approach healthcare. Consumers may lead the way by first accessing genomic technology on their own then sharing their genetic information with healthcare providers later on a need-to-know basis. Or they may wait for qualified genetics professionals to take the lead. No one knows exactly how consumers will embrace genomics and personalized medicine when they become part of standard medical care. There is no doubt, however, that the trickle of consumer genomics will soon grow into a torrent. Are we prepared?

*Disclosure: I work with DNA Direct.



Eye on DNA Headlines for 23 March 2008

by Dr. Hsien-Hsien Lei
Posted March 23, 2008 in Eye on DNA Headlines

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