December 10, 2013
Virginia under renewed pressure to give reparations for those sterilized under state law
Growing national attention to the 20th-century practice of forcibly sterilizing thousands of Americans has put new pressure on Virginia lawmakers to compensate survivors. A drumbeat from both the left and the right of the political spectrum has revived outrage over eugenics, a practice designed to create an American master race by preventing people with mental illness, developmental disabilities or epilepsy from having children. State officials estimate that Virginia sterilized 7,325 people under a 1924 state law that remained on the books until 1979. (Washington Post)
November 26, 2013
A New Edition of Nature Medicine is Available
Nature Medicine (Volume 19, No. 11, November 2013) is now available online by subscription only.
- “Small nanobody drugs win big backing from pharma” by Sarah CP Williams
- “Straight talk with…Ricardo Dolmetsch”
- “Telltale hearts” by Jeanne Erdmann
- “A new value proposition” by Michael Kolodziej, et al.
- “Eugenics to medical genetics”: Wylie Burke reviews “The Science of Human Perfection: How Genes Became the Heart of American Medicine” by Nathaniel Comfort
November 25, 2013
‘Egg agents’ recruiting models, actresses for IVF donations
The hottest role these days for a young actress? Egg donor. Egg “agents” are aggressively recruiting models and actresses, whose looks are coveted by couples turning to in-vitro fertilisation. (The Herald Sun)
Most who test positive in new prenatal test opt for abortion
A blood-based prenatal test to detect chromosomal abnormalities in fetuses has surged in popularity since debuting in April, with most women who test positive opting for abortions, a study presented at a meeting of genetics experts showed Friday. The study said 53 out of 56 who received confirmation of testing positive for genetic anomalies chose to terminate pregnancy, while a “very small” number of people aborted after preliminarily testing positive before confirmation, raising concern the test may lead to unnecessary terminations. (The Japan Times)
November 13, 2013
Doctors and ethics: From the Nazis to now
A physician is supposed to be a healer. Helping patients is so central to the profession’s ideal that newly minted doctors take an oath to “do no harm”. As a medical student, I look forward to the unique honour and responsibility of taking care of patients; but I’m also conscious of – and frightened by – a darker side of medical history. In 2011, I took part in the Fellowships at Auschwitz for the Study of Professional Ethics (FASPE) and learned that in World War II Germany, more physicians than any other professional group joined the Nazi Party and became members of the SS. (Huffington Post)
November 11, 2013
Eugenics to medical genetics
Nathaniel Comfort’s whirlwind tour through twentieth-century human genetics is alternately thought-provoking, entertaining and exasperating. His goal is to demonstrate a eugenic impulse that runs continuously from the early 1900s to the present. I think he succeeds in this aim to some extent. (Nature, by subscription only)
November 7, 2013
Single-cell genomics could improve IVF screening
Fertility doctors in Beijing have begun testing a new method for genome analysis of human eggs before using them for in vitro fertilization or IVF. The tests, using technology developed by a Harvard chemist, allow doctors to know the genome of a woman’s egg before it is used in IVF, which could provide a safer way to help their patients avoid genetic disorders in children. (MIT Technology Review)
November 6, 2013
Genetics in the News
It seems like every week there is a new genetics story in the news. Angelina Jolie made the headlines last summer with her decision to have a double mastectomy, which was based on her family history and BRAC genetic tests. A couple who had struggled with infertility used genetic screening to select healthy embryos from their IVF procedure. And, recently, the NIH announced that they are looking into the ramifications of requiring genetic testing for all U.S. infants.
Genetic testing raises many questions: How reliable are the results? What should one do with the results? Does one have a right to not know his or her genetic history? Will genetic testing in utero lead to abortions? What about false positives or false negatives? Who else will know the results of the genetic tests? Can insurance companies penalize people with “bad” genes?
Interestingly, at the very time when we are able to sequence an entire human genome rapidly enough that infant genetic testing is feasible, we have learned that the genetic sequence is only part of the story. Epigenetic factors, those factors that are not related to the actual DNA sequence, also play a role in disease and whether a particular gene is turned on or off. This means that a read-out of an individual’s sequence of A’s, T’s, G’s, and C’s may not provide as much information as we once thought.
Let’s take a look at how genome sequencing works, and why it still doesn’t tell us everything. By looking at the science and how it is applied, we can readily see that there are many unanswered questions for bioethicists to consider:
By way of definitions, genome sequencing, or genetic sequencing, involves acquiring a read-out of the DNA nucleotides in an individual’s genome. Sequencing technology has advanced in the last decade since the human genome was first sequenced. The technology used in the Human Genome Project to sequence the genome was remarkably tedious. This technique, a process known as Sanger sequencing, involves looking at thousands of fragments of DNA and reading only the terminal nucleotide. The fragments are made from a template piece of DNA. Each fragment is longer than the one before because it adds nucleotides until it has re-built the original DNA sequence.
Today, scientists use “next generation sequencing” (NGS). This method involves a high throughput, allowing for much quicker sequencing and results. No longer do they look at individual pieces of DNA; instead, thousands of segments of DNA are sequenced at one time. An entire human genome can be sequenced in a matter of days. This technique involves taking fragments of DNA and using them as templates. These templates are washed with known nucleotide sequences that are “tagged” with markers (e.g., a fluorescent marker). These tags are then read, and a sequence is determined through complicated data analysis methods. (See here for a good discussion of this technique.)
Genetic screening involves looking for certain genes, traits, markers, or indicators of a disease. In screening, scientists are usually looking at a particular segment of DNA or checking for a particular chromosome that is a known marker for a disease. For example, when doctors screen for Down syndrome in an unborn child, they do so by looking at the genome of a fetal cell to see if it has an extra chromosome.
Additionally, there are a few diseases for which a particular gene codes. If a person has a certain gene, for instance, it will lead to that person eventually getting Huntington’s disease. Most diseases, however, do not have such a direct gene-to-disease connection, even when they are associated with a known genetic marker. The idea that one’s genetic sequence necessarily results in getting a particular disease or even having a particular disposition is known as genetic determinism. The BRCA gene is a counter-example to genetic determinism.If someone has the BRCA gene, then that person has a higher probability (or susceptibility) of getting breast cancer. This doesn’t mean she will certainly get breast cancer, though. This is why some people questioned Angelina Jolie’s decision to get a pre-emptive double mastectomy on the basis of her BRCA screening results. This is also partly why genetic screening is rife with ethical concerns.
About ten years after the completion of the Human Genome Project, the results of the ENCODE project were announced. ENCODE demonstrated that there is more to DNA than coding for proteins, and DNA is more complex than merely having a gene. Epigenetic factors, such as chemical tags on nucleotides, affect whether and how a gene is expressed. These factors arise for various reasons, including environment and behavior. Even if someone has a gene for a particular disease, the right epigenetic factors may also be necessary for that gene to be turned on. Furthermore, scientists are finding that some diseases are caused by epigenetic factors that have gone awry rather than a mutation in a particular gene.
One of the key bioethical concerns with genetic screening is what to do with the information from sequencing an entire genome, or even just from screening for a particular disease. Oftentimes genetics deals with probabilities, not certainties, and if individuals’ behavior cannot affect whether or not they develop some diseases anyway, then what advantage is there in knowing that they could possibly get one of those diseases? Is it even appropriate to tell such a person that he or she has the markers for a disease when the causes and probabilities for getting the disease are largely unknown? Another related issue deals with incidental findings. Here an individual may seek genetic testing to find out if she has the BRCA gene, only to find out that she carries the marker for some other disease, for which she was completely unsuspecting. Additionally, genetic markers often run in families, so now the individual must decide whether or not she is obligated to tell her family. Doctors are put in a similar position of whether or not he is obligated to tell a patient about incidental findings.
The NIH is considering making genetic sequencing standard practice for newborns. Current technology is already such that IVF combined with genetic sequencing allows particular embryos to be selected based on their genetic sequence. A recent news story reported the birth of a baby boy to the Scheidts-Levy’s; their doctors had used NGS to select one embryo (from the eight they had created through IVF) which did not have a particular chromosomal abnormality. The idea was that a healthy embryo would be more likely to implant and not lead to miscarriage. According to the Washington Post, “The big advantage of using NGS is that multiple embryos can be screened simultaneously, significantly reducing costs.”
There is a certain disquiet surrounding genetic technologies. The rhetoric is in terms of helping people, either helping them to find cures for diseases or helping them know more about themselves so they can make informed decisions in regards to lifestyle, preventative measures, or financial planning. . But knowing your baby’s genetic make-up before he or she is born, or at birth, is different from using a genetic test to diagnose a disease. The rhetoric too easily slips from that of healing by identifying the cause of a disease to preventing (or controlling) “undesirable” effects of a genetic make-up by predicting them. The 19th and 20th centuries testify to how easy it is to use genetics to make predictions – and draw conclusions about how such predictions should be interpreted – that are deeply and often subtly influenced by societal prejudices. It is important to be cautious when it comes to genetic predictions; the difference between diagnosis and prediction is important in responsible ethical analysis.
November 1, 2013
Judge invalidates patent for a Down syndrome test
A federal judge has invalidated the central patent underlying a noninvasive method of detecting Down syndrome in fetuses without the risk of inducing a miscarriage. The ruling is a blow to Sequenom, a California company that introduced the first such noninvasive test in 2011 and has been trying to lock out competitors in a fast-growing market by claiming they infringe on the patent. (New York Times)
October 21, 2013
Baby sex checks for autism
For the first time, WA health authorities have allowed embryos to be screened to reduce the chance of a high-risk family having a child with autism. The Reproductive Technology Council approved the application for a fertility clinic to do a pre-implantation genetic diagnosis, or PGD, to screen for autism. There are no genetic tests for autism, so instead of looking for a gene mutation, the screening identifies the embryo’s sex because boys are at least four times more likely to develop autism. (Au.news.yahoo)
October 16, 2013
New IVF research shows single embryo transfer with comprehensive chromosome screening results in equivalent delivery rates, healthier babies and lower cost
Reproductive Medicine Associates of New Jersey, (RMANJ), a world-renowned leader in the field of infertility, released new clinical research today examining the downstream clinical and financial benefits of Comprehensive Chromosome Screening (CCS) when coupled with Single Embryo Transfer (SET) at the 69th Annual American Society for Reproductive Medicine Meeting in Boston, MA. This new data titled, “Reducing the Burden of ART Care: Single Blastocyst Transfer After Comprehensive Chromosome Screening provides equivalent Delivery Rates, Eliminates Twins and Lowers Global Heath Care Costs” is a follow-up of 175 patients who participated in RMANJ’s BEST (Blastocyst Euploid Selective Transfer) clinical trial. (Sacramento Bee)
October 15, 2013
New test may spot which embryos stand greatest chance of survival
Doctors have unveiled a new test for determining which embryos have the best chance of survival. The amount of mitochondria found in the cells of an embryo appeared to be a marker of its health, doctors reported Monday at the International Federation of Fertility Societies and American Society for Reproductive Medicine annual meeting in Boston. Research presented at meetings is considered preliminary until published in a peer-reviewed medical journal. (U. S. News and World Report)
October 14, 2013
When two become three: Couple sues IVF clinic over ‘extra child’
A COUPLE who was desperate to have a baby and resorted to IVF is suing a prominent Queensland fertility clinic after the woman gave birth to triplets instead of twins. In only the second case of its kind in Australia, the 35-year-olds are seeking $510,400 in damages, mostly to cover the costs of rearing their unexpected third child. (The Australian, available by subscription only)
IVF and chromosome testing: An interview with Dr. Santiago Munne
What chromosome tests are usually performed prior to IVF and why?
Prior to IVF there are no tests that could predict what chromosomes are abnormal. We can only test for that by biopsying the embryos produced during IVF. This is now done at the 5th day of development (called blastocyst stage). We take usually 3-10 cells from a part of the embryo that will become the placenta, and therefore it does not touch the tissue that will become the fetus. All studies seem to indicate that there is no damage to the embryo. (News-Medical)
October 11, 2013
Gender-based abortions spark outrage in England
A group of Christian lawyers plans to sue two medical doctors who have raised a storm of controversy for arranging the abortion of female fetuses because the parents wanted boys. Andrea Williams, CEO of the London-based Christian Concern, said her group would file suit against the doctors since the government declined to charge them. In an Oct. 7 letter to the attorney general, Director of Public Prosecutions Keir Starmer said the Abortion Act of 1967 “does not expressly prohibit gender specific abortions.” (Washington Post)
October 9, 2013
Proposed treatment to fix genetic diseases raising ethical issues
The federal government is considering whether to allow scientists to take a controversial step: make changes in some of the genetic material in a woman’s egg that would be passed down through generations. Mark Sauer of the Columbia University Medical Center, a member of one of two teams of U.S. scientists pursuing the research, calls the effort to prevent infants from getting devastating genetic diseases “noble.” Sauer says the groups are hoping “to cure disease and to help women delivery healthy normal children.” (NPR)
Studies test how early in life to peek inside DNA
Little Amelia Sloan became a pioneer shortly after her birth. The healthy baby is part of a large research project outside the nation’s capital that is decoding the DNA of hundreds of infants. New parents in a few other cities soon can start signing up for smaller studies to explore what’s called genome sequencing – fully mapping someone’s genes to look for health risks – should become a part of newborn care. (Associated Press)
Breakthroughs in prenatal screening
The newest screening test, highly accurate and noninvasive, relies on fetal genetic fragments found in the mother’s blood. Available commercially from four companies, this test is so accurate in detecting Down syndrome that few, if any, affected fetuses are missed, and far fewer women need an invasive procedure to confirm or refute the presence of Down, according to studies in several countries. (New York Times)
October 7, 2013
Commentary: The eugenics legacy of the Nobelist who fathered IVF
One detail omitted from the obituaries published around the world was that Edwards was a member in good standing of the Eugenics Society in Britain for much of his career. (Scientific American)
Software infringing on a woman’s right to abort?
The highly praised Kolhapur model of Silent Observer software (SIOB) scheme to curb sex selection and determination has had an undesired side effect on women’s right to safe abortion, say experts and activists. Worse, doctors have started denying abortions to women, bogged down as they are with extensive paperwork and the need for permissions to perform one. (Times of India)
October 4, 2013
Genepeeks firm to offer ‘digital baby’ screen for sperm donors
A service that digitally weaves together the DNA of prospective parents to check for potential disease in thousands of “virtual babies” is set to launch in the US by December. New York start-up Genepeeks will initially focus on donor sperm, simulating before pregnancy how the genetic sequence of a female client might combine with those of different males. Donors that more often produce “digital children” with a higher risk of inherited disorders will be filtered out, leaving those who are better genetic matches. (BBC)