Lyn Chitty

Last updated

Dame

Lyn Susan Chitty
DBE
Alma mater University College London
Known forNon-invasive prenatal diagnostics
Scientific career
Institutions Great Ormond Street Hospital

Dame Lyn Susan Chitty DBE is a British physician and Professor of Genetics and Fetal Medicine at University College London. She is the deputy director of the National Institute for Health and Care Research Great Ormond Street Hospital Biomedical Research Centre. She is the 2022 president of the International Society for Prenatal Diagnosis. [1] Her research considers non-invasive prenatal diagnostics. She was made a Dame in the 2022 New Year Honours.

Contents

Early life and education

Chitty earned her medical degree at the University of London. [2]

Research and career

Chitty's interest is in prenatal genetic diagnostics and ultrasound screening of fatal skeletal abnormalities, enabling parents to find out about the health of their unborn children. [3] She was appointed a Chair the Great Ormond Street Hospital in 2009. [3]

Noninvasive prenatal testing (NIPT) for conditions such as Down syndrome [4] was made available through commercial providers in the United States and China in 2011, and in the United Kingdom by 2014. Chitty led the National Institute for Health and Care Research RAPID (Reliable, Accurate Prenatal, non-Invasive Diagnosis) programme, [5] which looked to investigate all aspects of non-invasive testing and evaluate how it could be incorporated into the National Health Service. [6] She showed that implementing noninvasive prenatal testing to the NHS was cost-neutral, and reduced the number of women who needed an invasive test to confirm a high-risk result. [7] [8] [9]

Chitty recruited one third of the rare diseases participants to the 100,000 genome project. [10] [11] [12] She helped members of the public understand genomics and genomic sequencing. At GOSH she worked with young people to understand public health and genomics. [10] She has argued that the lives of cancer patients will be transformed with genomic testing. [13]

In 2020, she was made President of the International Society for Prenatal Diagnosis. [1] She was appointed a Dame Commander of the British Empire in 2022. [14]

Select publications

Related Research Articles

<span class="mw-page-title-main">Amniocentesis</span> Sampling of amniotic fluid done mainly to detect fetal chromosomal abnormalities

Amniocentesis is a medical procedure used primarily in the prenatal diagnosis of genetic conditions. It has other uses such as in the assessment of infection and fetal lung maturity. Prenatal diagnostic testing, which includes amniocentesis, is necessary to conclusively diagnose the majority of genetic disorders, with amniocentesis being the gold-standard procedure after 15 weeks' gestation.

Genetic counseling is the process of investigating individuals and families affected by or at risk of genetic disorders to help them understand and adapt to the medical, psychological and familial implications of genetic contributions to disease. This field is considered necessary for the implementation of genomic medicine. The process integrates:

<span class="mw-page-title-main">BGI Group</span> Chinese genome sequencing company

BGI Group, formerly Beijing Genomics Institute, is a Chinese genomics company with headquarters in Yantian District, Shenzhen. The company was originally formed in 1999 as a genetics research center to participate in the Human Genome Project. It also sequences the genomes of other animals, plants and microorganisms.

<span class="mw-page-title-main">Prenatal testing</span> Testing for diseases or conditions in a fetus

According to the CDC, birth defects occur in approximately 3% of births in the United States every year. Prenatal testing is a tool that can be used to detect some of these abnormalities at various stages prior to birth. Prenatal testing consists of prenatal screening and prenatal diagnosis, which are aspects of prenatal care that focus on detecting problems with the pregnancy as early as possible. These may be anatomic and physiologic problems with the health of the zygote, embryo, or fetus, either before gestation even starts or as early in gestation as practicable. Screening can detect problems such as neural tube defects, chromosome abnormalities, and gene mutations that would lead to genetic disorders and birth defects, such as spina bifida, cleft palate, Down syndrome, Tay–Sachs disease, sickle cell anemia, thalassemia, cystic fibrosis, muscular dystrophy, and fragile X syndrome. Some tests are designed to discover problems which primarily affect the health of the mother, such as PAPP-A to detect pre-eclampsia or glucose tolerance tests to diagnose gestational diabetes. Screening can also detect anatomical defects such as hydrocephalus, anencephaly, heart defects, and amniotic band syndrome.

Hemolytic disease of the newborn (anti-Kell1) is the second most common cause of severe hemolytic disease of the newborn (HDN) after Rh disease. Anti-Kell1 is becoming relatively more important as prevention of Rh disease is also becoming more effective.

Noninvasive genotyping is a modern technique for obtaining DNA for genotyping that is characterized by the indirect sampling of specimen, not requiring harm to, handling of, or even the presence of the organism of interest. Beginning in the early 1990s, with the advent of PCR, researchers have been able to obtain high-quality DNA samples from small quantities of hair, feathers, scales, or excrement. These noninvasive samples are an improvement over older allozyme and DNA sampling techniques that often required larger samples of tissue or the destruction of the studied organism. Noninvasive genotyping is widely utilized in conservation efforts, where capture and sampling may be difficult or disruptive to behavior. Additionally, in medicine, this technique is being applied in humans for the diagnosis of genetic disease and early detection of tumors. In this context, invasivity takes on a separate definition where noninvasive sampling also includes simple blood samples.

The genetics and abortion issue is an extension of the abortion debate and the disability rights movement. Since the advent of forms of prenatal diagnosis, such as amniocentesis and ultrasound, it has become possible to detect the presence of congenital disorders in the fetus before birth. Specifically, disability-selective abortion is the abortion of fetuses that are found to have non-fatal mental or physical defects detected through prenatal testing. Many prenatal tests are now considered routine, such as testing for Down syndrome. Women who are discovered to be carrying fetuses with disabilities are often faced with the decision of whether to abort or to prepare to parent a child with disabilities.

<span class="mw-page-title-main">Trisomy 16</span> Partial or complete triplication of chromosome 16

Trisomy 16 is a chromosomal abnormality in which there are 3 copies of chromosome 16 rather than two. It is the most common trisomy leading to miscarriage and the second most common chromosomal cause of it, closely following X-chromosome monosomy. About 6% of miscarriages have trisomy 16. Those mostly occur between 8 and 15 weeks after the last menstrual period.

Natera, Inc. is a clinical genetic testing company based in Austin, Texas that specializes in non-invasive, cell-free DNA (cfDNA) testing technology, with a focus on women’s health, cancer, and organ health. Natera’s proprietary technology combines novel molecular biology techniques with a suite of bioinformatics software that allows detection down to a single molecule in a tube of blood. Natera operates CAP-accredited laboratories certified under the Clinical Laboratory Improvement Amendments (CLIA) in San Carlos, California and Austin, Texas.

Cell-free fetal DNA (cffDNA) is fetal DNA that circulates freely in the maternal blood. Maternal blood is sampled by venipuncture. Analysis of cffDNA is a method of non-invasive prenatal diagnosis frequently ordered for pregnant women of advanced maternal age. Two hours after delivery, cffDNA is no longer detectable in maternal blood.

Dennis Yuk Ming Lo is a Hong Kong molecular biologist, and an important contributor to the development of non-invasive prenatal testing. He is the current Associate Dean (Research) and Li Ka Shing Professor of Medicine at the Chinese University of Hong Kong (CUHK), as well as the head of the Department of Chemical Pathology of CUHK and the director of the Li Ka Shing Institute of Health Sciences. His research focuses on the detection of cell-free fetal DNA in blood plasma.

<span class="mw-page-title-main">Diana W. Bianchi</span> American medical geneticist and neonatologist

Diana W. Bianchi is the director of the U.S. National Institutes of Health Eunice Kennedy Shriver National Institute of Child Health and Human Development, a post often called “the nation’s pediatrician.” She is a medical geneticist and neonatologist noted for her research on fetal cell microchimerism and prenatal testing. Bianchi had previously been the Natalie V. Zucker Professor of Pediatrics, Obstetrics, and Gynecology at Tufts University School of Medicine and founder and executive director of the Mother Infant Research Institute at Tufts Medical Center. She also has served as Vice Chair for Research in the Department of Pediatrics at the Floating Hospital for Children at Tufts Medical Center.

<span class="mw-page-title-main">Genomics England</span> British company

Genomics England is a British company set up and owned by the United Kingdom Department of Health and Social Care to run the 100,000 Genomes Project. The project aimed in 2014 to sequence 100,000 genomes from NHS patients with a rare disease and their families, and patients with cancer. An infectious disease strand is being led by Public Health England.

Elective genetic and genomic testing are DNA tests performed for an individual who does not have an indication for testing. An elective genetic test analyzes selected sites in the human genome while an elective genomic test analyzes the entire human genome. Some elective genetic and genomic tests require a physician to order the test to ensure that individuals understand the risks and benefits of testing as well as the results. Other DNA-based tests, such as a genealogical DNA test do not require a physician's order. Elective testing is generally not paid for by health insurance companies. With the advent of personalized medicine, also called precision medicine, an increasing number of individuals are undertaking elective genetic and genomic testing.

Rh factor testing, also known as Rhesus factor testing, is the procedure of determining the rhesus D status of an individual.

Clinical metagenomic next-generation sequencing (mNGS) is the comprehensive analysis of microbial and host genetic material in clinical samples from patients by next-generation sequencing. It uses the techniques of metagenomics to identify and characterize the genome of bacteria, fungi, parasites, and viruses without the need for a prior knowledge of a specific pathogen directly from clinical specimens. The capacity to detect all the potential pathogens in a sample makes metagenomic next generation sequencing a potent tool in the diagnosis of infectious disease especially when other more directed assays, such as PCR, fail. Its limitations include clinical utility, laboratory validity, sense and sensitivity, cost and regulatory considerations.

Eleni Nastouli is a Greek clinical virologist who works at University College London Hospitals NHS Foundation Trust (UCLH) and Great Ormond Street Hospital. At UCLH, Nastouli leads the Advanced Pathogen Diagnostics Unit, where she develops technologies for genome sequencing as well as studying how viruses are transmitted around hospitals. During the COVID-19 pandemic Nastouli led an investigation into infection rates amongst healthcare workers.

<span class="mw-page-title-main">Christine Patch</span> Nurse and genetic counsellor

Christine Patch is a nurse and genetic counsellor. She is a Principal Staff Scientist in Genomic Counselling in the Society and Ethics Research group, part of Wellcome Connecting Science, based on the Wellcome Genome Campus. She is also the Clinical Lead for Genetic Counselling at Genomics England, and a former President of the European Society of Human Genetics.

<span class="mw-page-title-main">Vardit Ravitsky</span> Bioethicist, researcher, and author

Vardit Ravitsky is a bioethicist, researcher, and author. She is a full professor at the University of Montreal and a senior lecturer on Global Health and Social Medicine at Harvard Medical School. She is immediate-past president and current vice-president of the International Association of Bioethics, and the director of Ethics and Health at the Center for Research on Ethics. She is a Fellow of the Pierre Elliott Trudeau Foundation, where she Chaired the COVID-19 Impact Committee. She is also Fellow of The Hastings Center and of the Canadian Academy of Health Sciences.

Noninvasive prenatal testing (NIPT) is a method used to determine the risk for the fetus being born with certain chromosomal abnormalities, such as trisomy 21, trisomy 18 and trisomy 13. This testing analyzes small DNA fragments that circulate in the blood of a pregnant woman. Unlike most DNA found in the nucleus of a cell, these fragments are not found within the cells, instead they are free-floating, and so are called cell free fetal DNA (cffDNA). These fragments usually contain less than 200 DNA building blocks and arise when cells die, and their contents, including DNA, are released into the bloodstream. cffDNA derives from placental cells and is usually identical to fetal DNA. Analysis of cffDNA from placenta provides the opportunity for early detection of certain chromosomal abnormalities without harming the fetus.

References

  1. 1 2 "Presidents". ispdhome.org. Retrieved 31 December 2022.
  2. ↑ "Lyn Susan Chitty profile". gmc-uk.org. Retrieved 31 December 2022.
  3. 1 2 "Professor Lyn Chitty". norththamesglh.nhs.uk. Retrieved 31 December 2022.
  4. ↑ "Down's syndrome has become the newest front in the abortion wars". New Scientist. Retrieved 31 December 2022.
  5. ↑ "Lyn Chitty profile". AGBT.org. Retrieved 31 December 2022.
  6. ↑ Hill, Melissa; Wright, David; Daley, Rebecca; Lewis, Celine; McKay, Fiona; Mason, Sarah; Lench, Nicholas; Howarth, Abigail; Boustred, Christopher; Lo, Kitty; Plagnol, Vincent; Spencer, Kevin; Fisher, Jane; Kroese, Mark; Morris, Stephen (16 July 2014). "Evaluation of non-invasive prenatal testing (NIPT) for aneuploidy in an NHS setting: a reliable accurate prenatal non-invasive diagnosis (RAPID) protocol". BMC Pregnancy and Childbirth. 14 (1): 229. doi: 10.1186/1471-2393-14-229 . ISSN   1471-2393. PMC   4226037 . PMID   25027965.
  7. ↑ "Research leads to safer Down's Syndrome testing for expectant mothers". UCLPartners.com. Retrieved 31 December 2022.
  8. ↑ "Down's blood test 'would cut risk of miscarriage'". BBC News. 6 June 2015. Retrieved 31 December 2022.
  9. ↑ "First 'in womb' stem cell trial to begin". BBC News. 12 October 2015. Retrieved 31 December 2022.
  10. 1 2 "Professor Lyn Chitty made a Dame in New Year's Honours". gosh.nhs.uk. Retrieved 31 December 2022.
  11. ↑ Griffin, Blanche H.; Chitty, Lyn S.; Bitner-Glindzicz, Maria (9 December 2016). "The 100 000 Genomes Project: What it means for paediatrics". Archives of Disease in Childhood: Education and Practice Edition. 102 (2): 105–107. doi:10.1136/archdischild-2016-311029. ISSN   1743-0585. PMID   27940446. S2CID   5231863.
  12. ↑ Peter, Michelle; Hammond, Jennifer; Sanderson, Saskia C.; Gurasashvili, Jana; Hunter, Amy; Searle, Beverly; Patch, Christine; Chitty, Lyn S.; Hill, Melissa; Lewis, Celine (May 2022). "Participant experiences of genome sequencing for rare diseases in the 100,000 Genomes Project: a mixed methods study". European Journal of Human Genetics. 30 (5): 604–610. doi:10.1038/s41431-022-01065-2. ISSN   1476-5438. PMC   9091267 . PMID   35264738.
  13. ↑ "Cancer patients have lives transformed by gene tests". Times.co.uk. ISSN   0140-0460 . Retrieved 31 December 2022.
  14. ↑ "Lead NHS vaccine nurse and frontline staff among health service honours". england.nhs.uk. Retrieved 31 December 2022.
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